From e70ef368ae17dfd513d958b8e0124cc44efc4470 Mon Sep 17 00:00:00 2001 From: Daniel Standage Date: Tue, 23 Jun 2020 23:31:21 -0400 Subject: [PATCH] Refactor database build (#62) --- dbbuild/.gitignore | 1 + dbbuild/README.md | 34 +- dbbuild/Snakefile | 95 +- dbbuild/config.json | 6 + dbbuild/marker.tsv | 138 +- dbbuild/prep-dbs.sh | 70 + dbbuild/sources/1kgp/README.md | 26 +- dbbuild/sources/1kgp/Snakefile | 31 +- dbbuild/sources/1kgp/databases | 1 + dbbuild/sources/1kgp/download.sh | 14 - dbbuild/sources/1kgp/index.sh | 7 - dbbuild/sources/1kgp/marker-aes.tsv | 10713 ++++++++++++++++ dbbuild/sources/1kgp/mhfreqs.py | 16 +- dbbuild/sources/1kgp/prepinfocalc.py | 5 +- dbbuild/sources/alfred2018/README.md | 27 +- dbbuild/sources/alfred2018/Snakefile | 4 +- dbbuild/sources/alfred2018/databases | 1 + dbbuild/sources/chen2019/README.md | 12 +- dbbuild/sources/hiroaki2015/README.md | 28 +- dbbuild/sources/hiroaki2015/Snakefile | 4 +- dbbuild/sources/hiroaki2015/databases | 1 + dbbuild/sources/puentephillips2020/README.md | 12 +- dbbuild/sources/puentephillips2020/Snakefile | 4 +- dbbuild/sources/puentephillips2020/databases | 1 + dbbuild/sources/staadig2019/README.md | 21 +- dbbuild/sources/staadig2019/Snakefile | 4 +- dbbuild/sources/staadig2019/databases | 1 + dbbuild/sources/vandergaag2018/README.md | 18 +- dbbuild/sources/vandergaag2018/Snakefile | 6 +- dbbuild/sources/voskoboinik2018/README.md | 30 +- dbbuild/sources/voskoboinik2018/Snakefile | 5 + .../compile_marker_definitions.py | 17 +- dbbuild/sources/voskoboinik2018/databases | 1 + dbbuild/sources/voskoboinik2018/download.sh | 10 - dbbuild/variantmap.tsv | 2978 ++--- 35 files changed, 12512 insertions(+), 1830 deletions(-) create mode 100644 dbbuild/config.json create mode 100755 dbbuild/prep-dbs.sh create mode 120000 dbbuild/sources/1kgp/databases delete mode 100755 dbbuild/sources/1kgp/download.sh delete mode 100755 dbbuild/sources/1kgp/index.sh create mode 100644 dbbuild/sources/1kgp/marker-aes.tsv create mode 120000 dbbuild/sources/alfred2018/databases create mode 120000 dbbuild/sources/hiroaki2015/databases create mode 120000 dbbuild/sources/puentephillips2020/databases create mode 120000 dbbuild/sources/staadig2019/databases create mode 100644 dbbuild/sources/voskoboinik2018/Snakefile create mode 120000 dbbuild/sources/voskoboinik2018/databases delete mode 100755 dbbuild/sources/voskoboinik2018/download.sh diff --git a/dbbuild/.gitignore b/dbbuild/.gitignore index f35a5e46..214441fd 100644 --- a/dbbuild/.gitignore +++ b/dbbuild/.gitignore @@ -1 +1,2 @@ hg38.fasta* +databases/ diff --git a/dbbuild/README.md b/dbbuild/README.md index 334a721d..fc628143 100644 --- a/dbbuild/README.md +++ b/dbbuild/README.md @@ -14,25 +14,28 @@ Alternatively, you can submit a pull request to the MicroHapDB Github repository ## Rebuilding the Database From Scratch: The Short Version -You'll need the following software: +Building MicroHapDB from scratch requires installing several software packages. +Conda provides the most convenient way to install these. -- Python 3 -- [Pandas][] -- [Snakemake][] -- [pyfaidx][] +``` +conda create -c bioconda --name microhapdb -y python=3.7 pandas snakemake pyfaidx rsidx scikit-allel +conda activate microhapdb +``` -And the following data: +Next, building MicroHapDB from scratch also requires the human reference genome, dbSNP, and the 1000 Genomes Project Phase 3 data. +These can be downloaded and indexed using with the `prep-dbs.sh` script. +**Note**: this can take several hours, depending on the speed of the Internet connection, computer processors, and other factors. -- Human reference genome (version GRCh38; http://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/hg38.fa.gz) +``` +git clone https://github.com/bioforensics/MicroHapDB.git # If you haven't already done so +cd MicroHapDB/dbbuild/ +./prep-dbs.sh +``` -With these dependencies installed, clone the MicroHapDB git repository and use Snakemake to rebuild the database in the `dbbuild/` directory. +Finally, with these data sets in place, MicroHapDB can be built using `Snakemake`. ``` -git clone https://github.com/bioforensics/MicroHapDB.git -cd MicroHapDB/dbbuild/ -wget http://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/hg38.fa.gz -gunzip hg38.fa.gz -snakemake --config refr=hg38.fa -p tables +snakemake --configfile config.json --cores 1 -p tables ``` If the Snakemake build process completes successfully, copy the newly created database tables to MicroHapDB's main data directory to complete the update! @@ -199,8 +202,3 @@ So for example, for marker `mh07PK-38311`: ...and therefore the PermID is `MHDBM-3ae6dc1b`. MicroHapDB uses the [pearhash](https://github.com/ze-phyr-us/pearhash) library under the MIT license to compute Pearson hashes. - - -[Pandas]: https://pandas.pydata.org -[Snakemake]: https://snakemake.readthedocs.io/en/stable/ -[pyfaidx]: https://github.com/mdshw5/pyfaidx diff --git a/dbbuild/Snakefile b/dbbuild/Snakefile index 9b406b40..1eb0edd7 100644 --- a/dbbuild/Snakefile +++ b/dbbuild/Snakefile @@ -30,12 +30,22 @@ def merge_markers(markerfiles, sourcefiles): return data -def write_variant_map(data, output): - print('Variant', 'Marker', sep='\t', file=output) +def construct_variant_map(data): + varlist, markerlist = list(), list() for n, row in data.iterrows(): - marker = row['Name'] - for variant in row['VarRef'].split(','): - print(variant, marker, sep='\t', file=output) + marker = row.Name + numoffsets = row.Offsets.count(',') + 1 + numrsids = row.VarRef.count(',') + 1 + if numoffsets != numrsids: + message = 'marker "{name:s}" has {no:d} variants but only {nv:d} rsids'.format( + name=marker, no=numoffsets, nv=numrsids + ) + print('WARNING:', message, file=sys.stderr) + for variant in row.VarRef.split(','): + varlist.append(variant) + markerlist.append(marker) + outdata = pandas.DataFrame({'Variant': varlist, 'Marker': markerlist}) + return outdata.sort_values('Variant') def populate_idmap(data): @@ -92,46 +102,6 @@ def add_marker_permids(data, refr): data['PermID'] = pandas.Series(permids) -def compute_marker_ae(data, freqs): - aes = list() - pops1kgp = set([ - 'CHB', 'JPT', 'CHS', 'CDX', 'KHV', 'CEU', 'TSI', 'FIN', 'GBR', 'IBS', 'YRI', 'LWK', 'GWD', - 'MSL', 'ESN', 'ASW', 'ACB', 'MXL', 'PUR', 'CLM', 'PEL', 'GIH', 'PJL', 'BEB', 'STU', 'ITU' - ]) - for n, row in data.iterrows(): - if n > 0 and n % 25 == 0: - print('...calculated AvgAe for', n, 'markers') - marker = row.Name - freqs_1kgp = freqs[(freqs.Marker == marker) & (freqs.Population.isin(pops1kgp))] - if len(freqs_1kgp) == 0: - print( - '[WARNING] no frequency data for marker ', marker, ', not computing AvgAe', - sep='', file=sys.stderr - ) - aes.append(None) - continue - ae_per_pop = list() - for pop in pops1kgp: - ae_recip = 0.0 - for haplotype in freqs[freqs.Marker == marker].Allele.unique(): - nallelesfreq = haplotype.count(',') - nallelesmarker = row.Offsets.count(',') - if nallelesfreq != nallelesmarker: - message = 'allele count disagreement for {marker:s}:'.format(marker=marker) - message += ' {:d} vs {:d};'.format(nallelesmarker, nallelesfreq) - message += ' ({:s})'.format(haplotype) - raise ValueError(message) - for freq in freqs[(freqs.Marker == marker) & (freqs.Population == pop)].Frequency: - ae_recip += freq ** 2 - assert ae_recip > 0.0, marker - ae = 1.0 / ae_recip - ae_per_pop.append(ae) - assert len(ae_per_pop) == 26 - avg_ae = sum(ae_per_pop) / len(ae_per_pop) - aes.append('{:.04f}'.format(avg_ae)) - return data.assign(AvgAe=pandas.Series(aes)) - - def sort_and_clean(data): data['ChromSort'] = data.Chrom.apply(lambda c: '0X' if c == 'chrX' else int(c[3:])) data['TempPos'] = data.Offsets.apply(lambda os: int(os.split(',')[0])) @@ -139,15 +109,23 @@ def sort_and_clean(data): data.drop(columns=['Xref', 'VarRef', 'ChromSort', 'TempPos'], inplace=True) nr = data.drop_duplicates(subset=('Name', 'Chrom', 'Offsets')) assert(len(nr.Name) == len(nr.Name.unique())) # If markers are defined in more than one place, make sure the definitions are identical. - return data[['Name', 'PermID', 'Reference', 'Chrom', 'Offsets', 'AvgAe', 'Source']] + return data[['Name', 'PermID', 'Reference', 'Chrom', 'Offsets', 'AvgAe', 'In', 'Source']] + + +def add_avgae(data, aefile): + aes = pandas.read_csv(aefile, sep='\t') + avgae = {'Marker': list(), 'AvgAe': list()} + for marker, mdata in aes.groupby('Marker'): + assert len(mdata) == 26 + meanae = mdata.Ae.mean() + avgae['Marker'].append(marker) + avgae['AvgAe'].append(meanae) + return data.join(pandas.DataFrame(avgae).set_index('Marker'), on='Name') def add_informativeness(data, informfile): - info = pandas.read_csv(informfile, sep='\t') - data['In'] = None - for n, row in info.iterrows(): - data.loc[data.Name == row.Marker, 'In'] = row.Informativeness - return data[['Name', 'PermID', 'Reference', 'Chrom', 'Offsets', 'AvgAe', 'In', 'Source']] + info = pandas.read_csv(informfile, sep='\t').rename(columns={'Informativeness': 'In'}) + return data.join(info.set_index('Marker'), on='Name') SOURCES = [os.path.basename(file) for file in glob('sources/*') if os.path.isdir(file)] @@ -209,7 +187,7 @@ rule frequencies: rule markers: input: config['refr'], - 'frequency.tsv', + 'sources/1kgp/marker-aes.tsv', 'sources/1kgp/marker-informativeness.tsv', expand('sources/{source}/marker.tsv', source=SOURCES), expand('sources/{source}/source.txt', source=SOURCES), @@ -218,7 +196,7 @@ rule markers: varmap='variantmap.tsv', idmap='marker-idmap.tsv' run: - freqfile = input[1] + aefile = input[1] informfile = input[2] input = input[3:] numsources = int(len(input) / 2) @@ -226,18 +204,17 @@ rule markers: sourcefiles = input[numsources:] data = merge_markers(markerfiles, sourcefiles) - with open(output.varmap, 'w') as fh: - write_variant_map(data, fh) + varmap = construct_variant_map(data) + varmap.to_csv(output.varmap, sep='\t', index=False) add_marker_permids(data, config['refr']) - freqs = pandas.read_csv(freqfile, sep='\t') - data = compute_marker_ae(data, freqs) idmap = populate_idmap(data) idmap.to_csv(output.idmap, sep='\t', index=False) - data = sort_and_clean(data) + data = add_avgae(data, aefile) data = add_informativeness(data, informfile) - data.to_csv(output.table, sep='\t', index=False) + data = sort_and_clean(data) + data.to_csv(output.table, sep='\t', index=False, float_format='%.4f') rule idmap: diff --git a/dbbuild/config.json b/dbbuild/config.json new file mode 100644 index 00000000..4641bb87 --- /dev/null +++ b/dbbuild/config.json @@ -0,0 +1,6 @@ +{ + "refr": "databases/hg38.fa", + "dbsnp37": "databases/dbSNP/dbSNP_GRCh37.vcf.gz", + "dbsnp38": "databases/dbSNP/dbSNP_GRCh38.vcf.gz", + "1kgp_dir": "databases/1000Genomes" +} diff --git a/dbbuild/marker.tsv b/dbbuild/marker.tsv index ddd67a61..913fdae8 100644 --- a/dbbuild/marker.tsv +++ b/dbbuild/marker.tsv @@ -1,16 +1,16 @@ Name PermID Reference Chrom Offsets AvgAe In Source -mh01KK-172 MHDBM-d5a744a2 GRCh38 chr1 1551453,1551522,1551678 2.9310 0.216 ALFRED +mh01KK-172 MHDBM-d5a744a2 GRCh38 chr1 1551453,1551522,1551678 2.9310 0.2160 ALFRED mh01USC-1pA MHDBM-b44cecf4 GRCh38 chr1 1594569,1594598,1594613,1594617 3.8005 0.2029 10.1016/j.fsigen.2019.102213 -mh01KK-001 MHDBM-a9f4dcdb GRCh38 chr1 3826567,3826754,3826785,3826826 3.1421 0.286 ALFRED +mh01KK-001 MHDBM-a9f4dcdb GRCh38 chr1 3826567,3826754,3826785,3826826 3.1421 0.2860 ALFRED mh01KK-106 MHDBM-af04b293 GRCh38 chr1 4167403,4167500,4167563,4167573 2.6379 0.1962 ALFRED -mh01KK-070 MHDBM-880ee42f GRCh38 chr1 11794399,11794418 1.9123 0.1409 ALFRED +mh01KK-070 MHDBM-880ee42f GRCh38 chr1 11794399,11794418 1.9122 0.1409 ALFRED mh01CP-007 MHDBM-e3b668ed GRCh38 chr1 12788891,12788904,12788907 2.6569 0.0412 ALFRED -mh01CP-008 MHDBM-654c8337 GRCh38 chr1 14503432,14503434,14503448 2.4674 0.122 ALFRED +mh01CP-008 MHDBM-654c8337 GRCh38 chr1 14503432,14503434,14503448 2.4674 0.1220 ALFRED mh01NH-01 MHDBM-b23c6598 GRCh38 chr1 17072257,17072295,17072353 2.3626 0.0757 10.1016/j.legalmed.2015.06.003 mh01NH-02 MHDBM-f3e32a4c GRCh38 chr1 17095427,17095460,17095515 2.1842 0.0997 10.1016/j.legalmed.2015.06.003 mh01KK-205 MHDBM-1f7eaca2 GRCh38 chr1 18396197,18396218,18396306,18396351 4.0654 0.0717 ALFRED mh01AT-02 MHDBM-6ba6d44e GRCh38 chr1 18396306,18396351 2.5324 0.0338 ISFG2019:P597 -mh01KK-210 MHDBM-f9d95c20 GRCh38 chr1 22815857,22816002 2.2022 0.153 ALFRED +mh01KK-210 MHDBM-f9d95c20 GRCh38 chr1 22815857,22816002 2.2022 0.1530 ALFRED mh01USC-1pB MHDBM-6f2b4d60 GRCh38 chr1 53116633,53116648,53116652 3.0632 0.1431 10.1016/j.fsigen.2019.102213 mh01CP-016 MHDBM-021e569a GRCh38 chr1 55559012,55559050,55559056 2.8584 0.0813 ALFRED mh01CP-012 MHDBM-d80c4757 GRCh38 chr1 60999611,60999616,60999641 2.7927 0.1755 ALFRED @@ -35,16 +35,16 @@ mh02CP-004 MHDBM-93f8bfc4 GRCh38 chr2 7112049,7112052,7112077 3.0870 0.0845 ALFR mh02USC-2pA MHDBM-1734fe04 GRCh38 chr2 10810991,10811035,10811042,10811069 2.7695 0.3702 10.1016/j.fsigen.2019.102213 mh02LV-08 MHDBM-7b891c73 GRCh38 chr2 28567654,28567659,28567662,28567673,28567678,28567685,28567689,28567692,28567695,28567696,28567704,28567713,28567739,28567816,28567817,28567820,28567824,28567843 13.9066 0.6344 10.1016/j.fsigen.2018.05.001 mh02NH-05 MHDBM-400c355b GRCh38 chr2 30966369,30966437,30966478,30966534 1.4395 0.0245 10.1016/j.legalmed.2015.06.003 -mh02USC-2pB MHDBM-92018504 GRCh38 chr2 45236329,45236347,45236397 3.2887 0.108 10.1016/j.fsigen.2019.102213 +mh02USC-2pB MHDBM-92018504 GRCh38 chr2 45236329,45236347,45236397 3.2887 0.1080 10.1016/j.fsigen.2019.102213 mh02KK-138 MHDBM-bc9ea531 GRCh38 chr2 45964843,45964877,45964938,45964952,45965051,45965091 3.2796 0.2654 ALFRED mh02KK-073 MHDBM-2885ae1f GRCh38 chr2 46359894,46359957 2.4468 0.0816 ALFRED -mh02USC-2pC MHDBM-fbf0d379 GRCh38 chr2 79025823,79025835,79025901,79025902 3.9437 0.062 10.1016/j.fsigen.2019.102213 +mh02USC-2pC MHDBM-fbf0d379 GRCh38 chr2 79025823,79025835,79025901,79025902 3.9436 0.0620 10.1016/j.fsigen.2019.102213 mh02KK-105 MHDBM-f60628c8 GRCh38 chr2 96700565,96700586 2.0209 0.2043 ALFRED -mh02KK-131 MHDBM-abe94175 GRCh38 chr2 97748700,97748786 1.9450 0.266 ALFRED +mh02KK-131 MHDBM-abe94175 GRCh38 chr2 97748700,97748786 1.9450 0.2660 ALFRED mh02KK-213 MHDBM-3697ccfe GRCh38 chr2 100480397,100480409,100480497 2.5914 0.1416 ALFRED mh02USC-2qA MHDBM-6443f01d GRCh38 chr2 102476043,102476053,102476115,102476124 3.2848 0.1309 10.1016/j.fsigen.2019.102213 mh02KK-202 MHDBM-e29a3977 GRCh38 chr2 107031716,107031855 2.0468 0.0589 ALFRED -mh02KK-139 MHDBM-b19d2e01 GRCh38 chr2 108897144,108897197 1.6759 0.4396 ALFRED +mh02KK-139 MHDBM-b19d2e01 GRCh38 chr2 108897144,108897197 1.6760 0.4396 ALFRED mh02KK-102 MHDBM-4a6b420c GRCh38 chr2 108897599,108897648,108897735 1.7957 0.1496 ALFRED mh02KK-003 MHDBM-13b749ff GRCh38 chr2 108969856,108969914,108969980 2.1057 0.3022 ALFRED mh02KK-004 MHDBM-652d62eb GRCh38 chr2 118985034,118985127,118985288 2.5745 0.2279 ALFRED @@ -53,17 +53,17 @@ mh02USC-2qB MHDBM-4c590dd3 GRCh38 chr2 137845753,137845766,137845786 2.8613 0.12 mh02KK-201 MHDBM-39f1774b GRCh38 chr2 144995598,144995712 2.2920 0.2064 ALFRED mh02KK-005 MHDBM-92520b40 GRCh38 chr2 149097582,149097738 2.4739 0.0818 ALFRED mh02KK-134 MHDBM-daea3d38 GRCh38 chr2 160222899,160222923,160222938,160223002 5.2060 0.2759 ALFRED -mh02AT-05 MHDBM-c3feaba8 GRCh38 chr2 160222899,160222923,160222938 4.5544 0.2 ISFG2019:P597 +mh02AT-05 MHDBM-c3feaba8 GRCh38 chr2 160222899,160222923,160222938 4.5544 0.2000 ISFG2019:P597 mh02USC-2qC MHDBM-da8a7daf GRCh38 chr2 168160894,168160925,168160949 3.3237 0.0929 10.1016/j.fsigen.2019.102213 mh02LV-05 MHDBM-d5e37dff GRCh38 chr2 173420586,173420600,173420616,173420625,173420627,173420633,173420649,173420650,173420667,173420671,173420687,173420717,173420724,173420732,173420752,173420753,173420773,173420782,173420786,173420788,173420836,173420910 20.7826 0.8416 10.1016/j.fsigen.2018.05.001 mh02USC-2qD MHDBM-735c6a59 GRCh38 chr2 205957895,205957903,205957915 3.2126 0.0914 10.1016/j.fsigen.2019.102213 mh02NH-06 MHDBM-ad7dc942 GRCh38 chr2 227052523,227052553,227052606 1.9423 0.0102 10.1016/j.legalmed.2015.06.003 -mh02KK-136 MHDBM-eb83984f GRCh38 chr2 227227672,227227689,227227742 4.0513 0.119 ALFRED -mh02AT-07 MHDBM-eb83984f GRCh38 chr2 227227672,227227689,227227742 4.0513 0.119 ISFG2019:P597 +mh02KK-136 MHDBM-eb83984f GRCh38 chr2 227227672,227227689,227227742 4.0513 0.1190 ALFRED +mh02AT-07 MHDBM-eb83984f GRCh38 chr2 227227672,227227689,227227742 4.0513 0.1190 ISFG2019:P597 mh02USC-2qE MHDBM-1e1cbc66 GRCh38 chr2 240602474,240602493,240602497 3.1061 0.1407 10.1016/j.fsigen.2019.102213 mh03LV-01 MHDBM-75964bf2 GRCh38 chr3 4567469,4567490,4567512,4567525,4567535,4567539,4567561,4567571,4567590,4567592,4567611,4567616,4567623,4567628,4567645,4567663,4567722,4567742,4567746,4567748,4567751,4567789 33.9190 0.8894 10.1016/j.fsigen.2018.05.001 -mh03USC-3pA MHDBM-19bcf279 GRCh38 chr3 5492729,5492767,5492772,5492797 3.7018 0.215 10.1016/j.fsigen.2019.102213 -mh03LV-07 MHDBM-5f7e29b6 GRCh38 chr3 5783508,5783509,5783518,5783523,5783525,5783531,5783541,5783542,5783543,5783544,5783552,5783562,5783564,5783571,5783577,5783607,5783608,5783611,5783612,5783617,5783618,5783619,5783623,5783626,5783635,5783648,5783652,5783653,5783663,5783664,5783671,5783672,5783673,5783676,5783677,5783678,5783681,5783684,5783687,5783695,5783704,5783705 14.0275 1.081 10.1016/j.fsigen.2018.05.001 +mh03USC-3pA MHDBM-19bcf279 GRCh38 chr3 5492729,5492767,5492772,5492797 3.7017 0.2150 10.1016/j.fsigen.2019.102213 +mh03LV-07 MHDBM-5f7e29b6 GRCh38 chr3 5783508,5783509,5783518,5783523,5783525,5783531,5783541,5783542,5783543,5783544,5783552,5783562,5783564,5783571,5783577,5783607,5783608,5783611,5783612,5783617,5783618,5783619,5783623,5783626,5783635,5783648,5783652,5783653,5783663,5783664,5783671,5783672,5783673,5783676,5783677,5783678,5783681,5783684,5783687,5783695,5783704,5783705 14.0275 1.0810 10.1016/j.fsigen.2018.05.001 mh03LV-06 MHDBM-a3596593 GRCh38 chr3 11914400,11914412,11914417,11914424,11914432,11914446,11914463,11914470,11914472,11914483,11914484,11914497,11914511,11914526,11914537,11914597 20.3159 0.8625 10.1016/j.fsigen.2018.05.001 mh03CP-005 MHDBM-18771df9 GRCh38 chr3 15643038,15643040,15643041,15643049 3.5438 0.1859 ALFRED mh03NH-07 MHDBM-77f3d5d4 GRCh38 chr3 20095118,20095152,20095190 2.4329 0.0475 10.1016/j.legalmed.2015.06.003 @@ -77,10 +77,10 @@ mh03USC-3qA MHDBM-bc69e92e GRCh38 chr3 98221103,98221116,98221142,98221179 2.790 mh03KK-009 MHDBM-c86f4bbb GRCh38 chr3 114171941,114171967 2.0205 0.1104 ALFRED mh03KK-006 MHDBM-96a5a489 GRCh38 chr3 121645325,121645388 1.8394 0.0998 ALFRED mh03KK-150 MHDBM-31ac28b1 GRCh38 chr3 131927127,131927156,131927242,131927311 3.4334 0.0752 ALFRED -mh03AT-09 MHDBM-e34ee4b8 GRCh38 chr3 131927127,131927156 2.7603 0.031 ISFG2019:P597 +mh03AT-09 MHDBM-e34ee4b8 GRCh38 chr3 131927127,131927156 2.7603 0.0310 ISFG2019:P597 mh03USC-3qB MHDBM-2f7b83eb GRCh38 chr3 134173988,134174020,134174027 2.7707 0.2457 10.1016/j.fsigen.2019.102213 mh03KK-020 MHDBM-864e58e1 GRCh38 chr3 140566272,140566491 2.1611 0.2349 ALFRED -mh03USC-3qC MHDBM-eacabfd9 GRCh38 chr3 196653025,196653034,196653044,196653084,196653121 6.0269 0.328 10.1016/j.fsigen.2019.102213 +mh03USC-3qC MHDBM-eacabfd9 GRCh38 chr3 196653025,196653034,196653044,196653084,196653121 6.0269 0.3280 10.1016/j.fsigen.2019.102213 mh04KK-010 MHDBM-07c8d144 GRCh38 chr4 1985210,1985244 2.9226 0.1306 ALFRED mh04AT-10 MHDBM-07c8d144 GRCh38 chr4 1985210,1985244 2.9226 0.1306 ISFG2019:P597 mh04KK-030 MHDBM-1e252b7e GRCh38 chr4 3664642,3664675,3664743,3664756 4.2975 0.2406 ALFRED @@ -94,21 +94,21 @@ mh04USC-4pB MHDBM-274a640e GRCh38 chr4 36638137,36638167,36638178 3.1885 0.0758 mh04KK-011 MHDBM-82345414 GRCh38 chr4 37857268,37857332 2.4866 0.1227 ALFRED mh04KK-074 MHDBM-56f06bb4 GRCh38 chr4 55457429,55457525 2.2365 0.1886 ALFRED mh04USC-4qA MHDBM-7026a721 GRCh38 chr4 58569908,58569910,58569935 3.2864 0.0856 10.1016/j.fsigen.2019.102213 -mh04KK-013 MHDBM-33a849c2 GRCh38 chr4 67578383,67578461,67578473,67578538,67578583 4.1089 0.17 ALFRED +mh04KK-013 MHDBM-33a849c2 GRCh38 chr4 67578383,67578461,67578473,67578538,67578583 4.1089 0.1700 ALFRED mh04AT-12 MHDBM-973672e0 GRCh38 chr4 67578461,67578473,67578538 3.2273 0.1047 ISFG2019:P597 -mh04USC-4qB MHDBM-b1f8974d GRCh38 chr4 99121084,99121090,99121110 2.5527 0.297 10.1016/j.fsigen.2019.102213 +mh04USC-4qB MHDBM-b1f8974d GRCh38 chr4 99121084,99121090,99121110 2.5527 0.2970 10.1016/j.fsigen.2019.102213 mh04KK-028 MHDBM-e011843a GRCh38 chr4 99346973,99347032 1.7470 0.1013 ALFRED mh04KK-015 MHDBM-b9ca0d85 GRCh38 chr4 99383008,99383090 2.0484 0.1043 ALFRED mh04KK-016 MHDBM-1670e3b2 GRCh38 chr4 99392838,99392904 2.0464 0.1054 ALFRED mh04KK-017 MHDBM-40955830 GRCh38 chr4 99400285,99400415,99400437 2.5989 0.1407 ALFRED mh04KK-029 MHDBM-62100129 GRCh38 chr4 99420681,99420703 1.3943 0.0572 ALFRED mh04USC-4qC MHDBM-fe779bcf GRCh38 chr4 154873438,154873480,154873485,154873488 3.0205 0.1068 10.1016/j.fsigen.2019.102213 -mh04KK-019 MHDBM-6f919cdc GRCh38 chr4 178707936,178708066 2.4275 0.132 ALFRED +mh04KK-019 MHDBM-6f919cdc GRCh38 chr4 178707936,178708066 2.4275 0.1320 ALFRED mh04USC-4qD MHDBM-0c892502 GRCh38 chr4 181874735,181874763,181874771,181874785 3.4150 0.2934 10.1016/j.fsigen.2019.102213 mh04KK-021 MHDBM-7b4cdfe7 GRCh38 chr4 186616978,186617175 2.4869 0.0972 ALFRED -mh05CP-006 MHDBM-8de30e74 GRCh38 chr5 2136455,2136487,2136491 3.1813 0.142 ALFRED +mh05CP-006 MHDBM-8de30e74 GRCh38 chr5 2136455,2136487,2136491 3.1813 0.1420 ALFRED mh05KK-170 MHDBM-22ddbb7d GRCh38 chr5 2447909,2447937,2448031,2448045 5.8163 0.3436 ALFRED -mh05AT-13 MHDBM-bdc390c8 GRCh38 chr5 2448031,2448045 3.1226 0.1421 ISFG2019:P597 +mh05AT-13 MHDBM-bdc390c8 GRCh38 chr5 2448031,2448045 3.1225 0.1421 ISFG2019:P597 mh05KK-062 MHDBM-7016a603 GRCh38 chr5 6844903,6844921 2.2553 0.1275 ALFRED mh05CP-004 MHDBM-2d7580bc GRCh38 chr5 9565017,9565022,9565043 2.8550 0.1026 ALFRED mh05KK-022 MHDBM-2f4b3f5c GRCh38 chr5 9619792,9619823 2.4671 0.0964 ALFRED @@ -123,9 +123,9 @@ mh05KK-122 MHDBM-b7d636c3 GRCh38 chr5 33958804,33958853 1.9948 0.2722 ALFRED mh05KK-123 MHDBM-22a6ab26 GRCh38 chr5 33962664,33962771 2.2470 0.1598 ALFRED mh05KK-124 MHDBM-ca56bac9 GRCh38 chr5 33969522,33969588 2.2659 0.2949 ALFRED mh05KK-023 MHDBM-e04e482d GRCh38 chr5 38881357,38881435,38881500 2.3554 0.0879 ALFRED -mh05KK-020 MHDBM-3175540a GRCh38 chr5 38881357,38881435,38881500,38881525 3.4735 0.105 ALFRED +mh05KK-020 MHDBM-3175540a GRCh38 chr5 38881357,38881435,38881500,38881525 3.4735 0.1050 ALFRED mh05USC-5pB MHDBM-f49d637a GRCh38 chr5 44554678,44554694 2.4472 0.0914 10.1016/j.fsigen.2019.102213 -mh05USC-5qA MHDBM-cea7d3fb GRCh38 chr5 56469015,56469033,56469103,56469108 3.6280 0.156 10.1016/j.fsigen.2019.102213 +mh05USC-5qA MHDBM-cea7d3fb GRCh38 chr5 56469015,56469033,56469103,56469108 3.6280 0.1560 10.1016/j.fsigen.2019.102213 mh05NH-09 MHDBM-843c1099 GRCh38 chr5 96913618,96913646,96913673 1.9406 0.0103 10.1016/j.legalmed.2015.06.003 mh05USC-5qB MHDBM-5c721c58 GRCh38 chr5 107030513,107030526,107030541,107030554 3.2945 0.2787 10.1016/j.fsigen.2019.102213 mh05USC-5qC MHDBM-a3dce276 GRCh38 chr5 133580667,133580689,133580716 3.4170 0.0856 10.1016/j.fsigen.2019.102213 @@ -133,9 +133,9 @@ mh05NH-10 MHDBM-a8ca41dd GRCh38 chr5 136051040,136051063,136051110 1.8582 0.0594 mh05USC-5qD MHDBM-7caf9769 GRCh38 chr5 178840367,178840377,178840413 3.5613 0.0497 10.1016/j.fsigen.2019.102213 mh06KK-025 MHDBM-81f9a3b6 GRCh38 chr6 2936965,2936989,2937112 2.5785 0.1692 ALFRED mh06CP-007 MHDBM-994edf59 GRCh38 chr6 4383078,4383097,4383120 3.4109 0.0935 ALFRED -mh06CP-003 MHDBM-565aef21 GRCh38 chr6 5561444,5561462,5561471 2.9985 0.131 ALFRED +mh06CP-003 MHDBM-565aef21 GRCh38 chr6 5561444,5561462,5561471 2.9984 0.1310 ALFRED mh06PK-24844 MHDBM-aa39cbba GRCh38 chr6 13861392,13861399,13861414,13861421,13861430,13861434,13861438,13861439,13861440,13861446 10.1016/j.fsigen.2018.05.008 -mh06KK-080 MHDBM-9fe2cdc6 GRCh38 chr6 15542066,15542151 1.3255 0.078 ALFRED +mh06KK-080 MHDBM-9fe2cdc6 GRCh38 chr6 15542066,15542151 1.3255 0.0780 ALFRED mh06KK-026 MHDBM-27068743 GRCh38 chr6 16399415,16399448,16399489 2.0401 0.1393 ALFRED mh06KK-030 MHDBM-4f17d55d GRCh38 chr6 16801535,16801551,16801634 2.8682 0.1524 ALFRED mh06USC-6pA MHDBM-8c95b05a GRCh38 chr6 23765102,23765123,23765143 3.5030 0.0444 10.1016/j.fsigen.2019.102213 @@ -154,7 +154,7 @@ mh07USC-7pA MHDBM-7f396ac7 GRCh38 chr7 11573508,11573525,11573544,11573551 3.568 mh07CP-004 MHDBM-9f52aec1 GRCh38 chr7 16789069,16789073,16789076,16789085,16789114 2.9913 0.1502 ALFRED mh07USC-7pB MHDBM-fb03f07f GRCh38 chr7 25407969,25407971,25407994,25408020 4.3649 0.1746 10.1016/j.fsigen.2019.102213 mh07NH-12 MHDBM-c461b994 GRCh38 chr7 39429982,39430036,39430062 1.7290 0.0235 10.1016/j.legalmed.2015.06.003 -mh07PK-38311 MHDBM-3ae6dc1b GRCh38 chr7 52677450,52677456,52677462,52677508 3.2638 0.1 10.1016/j.fsigen.2018.05.008 +mh07PK-38311 MHDBM-3ae6dc1b GRCh38 chr7 52677450,52677456,52677462,52677508 3.2638 0.1000 10.1016/j.fsigen.2018.05.008 mh07KK-030 MHDBM-30e2d2b6 GRCh38 chr7 53594403,53594437,53594500 2.4866 0.0511 ALFRED mh07USC-7pC MHDBM-ae69a0fa GRCh38 chr7 57150395,57150406,57150414,57150419,57150445 3.2672 0.2392 10.1016/j.fsigen.2019.102213 mh07USC-7qA MHDBM-09d9c9fc GRCh38 chr7 68587893,68587936,68587946 3.3276 0.0657 10.1016/j.fsigen.2019.102213 @@ -165,7 +165,7 @@ mh07KK-082 MHDBM-1a785986 GRCh38 chr7 141973450,141973544 1.8685 0.0445 ALFRED mh07USC-7qC MHDBM-6531b2fe GRCh38 chr7 151821663,151821692,151821719,151821720,151821731 3.9362 0.2237 10.1016/j.fsigen.2019.102213 mh08PK-46625 MHDBM-840756f3 GRCh38 chr8 1194352,1194356,1194364,1194371 2.3775 0.1132 10.1016/j.fsigen.2018.05.008 mh08USC-8pA MHDBM-3fc30baf GRCh38 chr8 3448907,3448913,3448925,3448935 3.8098 0.2051 10.1016/j.fsigen.2019.102213 -mh08KK-039 MHDBM-5078e94d GRCh38 chr8 3659269,3659313,3659351,3659400,3659461,3659481 4.1595 0.3955 ALFRED +mh08KK-039 MHDBM-5078e94d GRCh38 chr8 3659269,3659313,3659351,3659400,3659461,3659481 4.1596 0.3955 ALFRED mh08KK-032 MHDBM-90c91a19 GRCh38 chr8 11738319,11738459 2.3239 0.1401 ALFRED mh08USC-8pB MHDBM-dfcf526b GRCh38 chr8 40806674,40806697,40806707,40806709,40806723 3.4015 0.2065 10.1016/j.fsigen.2019.102213 mh08USC-8qA MHDBM-d80aad76 GRCh38 chr8 62032395,62032425,62032463 2.9167 0.1924 10.1016/j.fsigen.2019.102213 @@ -174,28 +174,28 @@ mh08CP-009 MHDBM-f1e79b99 GRCh38 chr8 112168152,112168167,112168168 2.9277 0.206 mh08USC-8qC MHDBM-95c68f0b GRCh38 chr8 137028438,137028480,137028499,137028520 3.2218 0.2156 10.1016/j.fsigen.2019.102213 mh09KK-161 MHDBM-43890ace GRCh38 chr9 344228,344331 1.8583 0.4381 ALFRED mh09KK-033 MHDBM-8458b727 GRCh38 chr9 680713,680762,680790 2.9343 0.1008 ALFRED -mh09AT-15 MHDBM-b46abf2e GRCh38 chr9 680713,680762,680767,680790 2.9471 0.116 ISFG2019:P597 +mh09AT-15 MHDBM-b46abf2e GRCh38 chr9 680713,680762,680767,680790 2.9471 0.1160 ISFG2019:P597 mh09USC-9pA MHDBM-3eb8b948 GRCh38 chr9 2288646,2288676,2288699,2288709,2288717 4.4514 0.2989 10.1016/j.fsigen.2019.102213 -mh09NH-13 MHDBM-b0cc1f39 GRCh38 chr9 6534435,6534465,6534507 3.2474 0.099 10.1016/j.legalmed.2015.06.003 +mh09NH-13 MHDBM-b0cc1f39 GRCh38 chr9 6534435,6534465,6534507 3.2474 0.0990 10.1016/j.legalmed.2015.06.003 mh09KK-034 MHDBM-c3fa885e GRCh38 chr9 12672274,12672319 2.2414 0.1677 ALFRED mh09KK-020 MHDBM-13b503c9 GRCh38 chr9 16795160,16795164,16795242,16795287 2.6851 0.3285 ALFRED mh09USC-9pB MHDBM-7da7af40 GRCh38 chr9 31196676,31196714,31196731,31196744 3.0919 0.1616 10.1016/j.fsigen.2019.102213 mh09USC-9qA MHDBM-90eb4532 GRCh38 chr9 70747687,70747714,70747746 3.1110 0.1236 10.1016/j.fsigen.2019.102213 -mh09KK-152 MHDBM-36a7f7d1 GRCh38 chr9 83193733,83193792,83193814,83193874 3.1066 0.163 ALFRED -mh09AT-16 MHDBM-8d216e58 GRCh38 chr9 83193792,83193814,83193874 3.0967 0.1586 ISFG2019:P597 +mh09KK-152 MHDBM-36a7f7d1 GRCh38 chr9 83193733,83193792,83193814,83193874 3.1066 0.1630 ALFRED +mh09AT-16 MHDBM-8d216e58 GRCh38 chr9 83193792,83193814,83193874 3.0968 0.1586 ISFG2019:P597 mh09KK-153 MHDBM-1651deb9 GRCh38 chr9 101207457,101207492,101207569 3.2675 0.2798 ALFRED -mh09USC-9qB MHDBM-1de2369f GRCh38 chr9 102141544,102141545,102141554,102141580 3.5948 0.208 10.1016/j.fsigen.2019.102213 +mh09USC-9qB MHDBM-1de2369f GRCh38 chr9 102141544,102141545,102141554,102141580 3.5948 0.2080 10.1016/j.fsigen.2019.102213 mh09LV-02 MHDBM-46974475 GRCh38 chr9 126716993,126717000,126717001,126717015,126717019,126717041,126717051,126717057,126717061,126717062,126717064,126717065,126717088,126717089,126717110,126717115,126717128,126717166,126717175,126717178,126717180,126717188,126717193,126717195,126717197,126717200,126717201,126717203,126717206,126717207,126717209,126717213,126717224,126717236,126717245,126717247,126717254,126717255,126717263,126717268,126717269,126717299,126717300,126717309,126717335 28.0040 0.9683 10.1016/j.fsigen.2018.05.001 mh09KK-157 MHDBM-d57c98ab GRCh38 chr9 132987091,132987107,132987175,132987204,132987244 3.5312 0.2163 ALFRED -mh09AT-17 MHDBM-b34d6dc3 GRCh38 chr9 132987175,132987204,132987244 2.6190 0.125 ISFG2019:P597 +mh09AT-17 MHDBM-b34d6dc3 GRCh38 chr9 132987175,132987204,132987244 2.6190 0.1250 ISFG2019:P597 mh09USC-9qC MHDBM-46fb8873 GRCh38 chr9 133903714,133903729,133903741,133903772,133903791 3.8223 0.1857 10.1016/j.fsigen.2019.102213 mh09KK-035 MHDBM-55752043 GRCh38 chr9 134525268,134525461 2.7376 0.0239 ALFRED mh09AT-18 MHDBM-f34a0fd9 GRCh38 chr9 134525429,134525458,134525461 2.7781 0.0513 ISFG2019:P597 mh10KK-163 MHDBM-195029a7 GRCh38 chr10 3120217,3120230,3120293,3120332,3120476 5.1071 0.2302 ALFRED -mh10AT-19 MHDBM-d0337f9d GRCh38 chr10 3120217,3120230,3120293 3.6750 0.1168 ISFG2019:P597 -mh10CP-006 MHDBM-f3170acd GRCh38 chr10 6217655,6217663,6217664,6217693,6217698 2.5827 0.2584 10.1016/j.fsigen.2019.02.018 +mh10AT-19 MHDBM-d0337f9d GRCh38 chr10 3120217,3120230,3120293 3.6749 0.1168 ISFG2019:P597 +mh10CP-006 MHDBM-f3170acd GRCh38 chr10 6217655,6217663,6217664,6217693,6217698 2.5828 0.2584 10.1016/j.fsigen.2019.02.018 mh10USC-10pA MHDBM-9632d6cb GRCh38 chr10 10370253,10370276,10370279 3.1754 0.0761 10.1016/j.fsigen.2019.102213 -mh10NH-14 MHDBM-0a571486 GRCh38 chr10 11288561,11288584,11288612 2.5211 0.1461 10.1016/j.legalmed.2015.06.003 +mh10NH-14 MHDBM-0a571486 GRCh38 chr10 11288561,11288584,11288612 2.5210 0.1461 10.1016/j.legalmed.2015.06.003 mh10KK-169 MHDBM-7dea0c4b GRCh38 chr10 14166361,14166510,14166588,14166611,14166652 5.7650 0.2829 ALFRED mh10CP-005 MHDBM-c110d1ac GRCh38 chr10 14613455,14613468,14613487 2.2441 0.1018 10.1016/j.fsigen.2019.02.018 mh10LV-03 MHDBM-e58b05b5 GRCh38 chr10 16674549,16674557,16674564,16674565,16674607,16674623,16674629,16674631,16674632,16674634,16674642,16674655,16674673,16674678,16674696,16674700,16674742,16674748,16674749,16674777,16674787,16674797,16674819,16674852,16674853,16674873 25.1567 0.8834 10.1016/j.fsigen.2018.05.001 @@ -207,27 +207,27 @@ mh10KK-170 MHDBM-a362392e GRCh38 chr10 77150283,77150315,77150472 2.7886 0.2465 mh10USC-10qB MHDBM-beabc817 GRCh38 chr10 81422390,81422401,81422406 2.7849 0.1512 10.1016/j.fsigen.2019.102213 mh10KK-083 MHDBM-ad2d3330 GRCh38 chr10 94761816,94761899 1.6203 0.0435 ALFRED mh10KK-084 MHDBM-b5c94a06 GRCh38 chr10 95058348,95058361 1.1626 0.0739 ALFRED -mh10KK-085 MHDBM-351b30d4 GRCh38 chr10 95067392,95067420 1.9112 0.1098 ALFRED -mh10KK-086 MHDBM-b71193ce GRCh38 chr10 95069672,95069771 1.9186 0.141 ALFRED +mh10KK-085 MHDBM-351b30d4 GRCh38 chr10 95067392,95067420 1.9111 0.1098 ALFRED +mh10KK-086 MHDBM-b71193ce GRCh38 chr10 95069672,95069771 1.9186 0.1410 ALFRED mh10KK-087 MHDBM-ea69bce3 GRCh38 chr10 105121710,105121752 1.9090 0.0201 ALFRED mh10NH-16 MHDBM-1dbaf308 GRCh38 chr10 113584043,113584071,113584092 1.7349 0.0321 10.1016/j.legalmed.2015.06.003 mh10PK-62104 MHDBM-5f9c6cab GRCh38 chr10 127392565,127392577,127392596,127392610,127392611,127392620,127392632 2.0068 0.0482 10.1016/j.fsigen.2018.05.008 mh10USC-10qC MHDBM-9fc26782 GRCh38 chr10 133152559,133152612,133152649 3.4118 0.1128 10.1016/j.fsigen.2019.102213 mh10KK-101 MHDBM-32587a6d GRCh38 chr10 133533422,133533454 2.1774 0.1047 ALFRED -mh10KK-088 MHDBM-a2aaddf0 GRCh38 chr10 133537759,133537857 1.5030 0.1163 ALFRED +mh10KK-088 MHDBM-a2aaddf0 GRCh38 chr10 133537759,133537857 1.5029 0.1163 ALFRED mh11PK-62906 MHDBM-796e0392 GRCh38 chr11 247979,247985,247997,248001,248009,248015,248035 2.5711 0.4029 10.1016/j.fsigen.2018.05.008 mh11KK-180 MHDBM-6d611fb7 GRCh38 chr11 1669560,1669680,1669738,1669753 4.0916 0.2604 ALFRED -mh11AT-20 MHDBM-cac036b3 GRCh38 chr11 1669719,1669738,1669753 3.3294 0.193 ISFG2019:P597 +mh11AT-20 MHDBM-cac036b3 GRCh38 chr11 1669719,1669738,1669753 3.3294 0.1930 ISFG2019:P597 mh11KK-036 MHDBM-3c24c3d4 GRCh38 chr11 5088715,5088837 2.6086 0.0563 ALFRED mh11AT-21 MHDBM-3c24c3d4 GRCh38 chr11 5088715,5088837 2.6086 0.0563 ISFG2019:P597 -mh11CP-003 MHDBM-a2ff96a7 GRCh38 chr11 5854636,5854653,5854658 3.4022 0.046 ALFRED +mh11CP-003 MHDBM-a2ff96a7 GRCh38 chr11 5854636,5854653,5854658 3.4022 0.0460 ALFRED mh11USC-11pA MHDBM-7c6d9d1a GRCh38 chr11 14767417,14767470,14767490 2.9992 0.1247 10.1016/j.fsigen.2019.102213 mh11NH-17 MHDBM-bca12cd3 GRCh38 chr11 17400242,17400312,17400338 2.5068 0.2077 10.1016/j.legalmed.2015.06.003 mh11CP-004 MHDBM-593f807f GRCh38 chr11 21063267,21063268,21063292 2.3288 0.0706 ALFRED mh11CP-005 MHDBM-71f2c227 GRCh38 chr11 23335742,23335767,23335773 2.8136 0.1411 ALFRED mh11PK-63643 MHDBM-c5ce121f GRCh38 chr11 34415814,34415816,34415818,34415835,34415836,34415846,34415850 10.1016/j.fsigen.2018.05.008 mh11USC-11pB MHDBM-2408c5b4 GRCh38 chr11 34415816,34415818,34415835,34415836 3.9841 0.1404 10.1016/j.fsigen.2019.102213 -mh11NH-18 MHDBM-c221d515 GRCh38 chr11 60929411,60929455,60929496 2.1087 0.059 10.1016/j.legalmed.2015.06.003 +mh11NH-18 MHDBM-c221d515 GRCh38 chr11 60929411,60929455,60929496 2.1087 0.0590 10.1016/j.legalmed.2015.06.003 mh11NH-19 MHDBM-9b0f1170 GRCh38 chr11 60929640,60929665,60929689 2.1420 0.1614 10.1016/j.legalmed.2015.06.003 mh11USC-11qA MHDBM-50f0463e GRCh38 chr11 70096117,70096120 2.8109 0.0998 10.1016/j.fsigen.2019.102213 mh11KK-037 MHDBM-2cddd3a7 GRCh38 chr11 72558169,72558257,72558302 2.3053 0.1492 ALFRED @@ -238,18 +238,18 @@ mh11USC-11qB MHDBM-cc78718a GRCh38 chr11 102727843,102727855,102727868,102727923 mh11KK-092 MHDBM-12397e44 GRCh38 chr11 113194301,113194570,113194596 3.0079 0.1017 ALFRED mh11KK-038 MHDBM-0de44dd7 GRCh38 chr11 113240778,113240942 2.3550 0.0988 ALFRED mh11KK-039 MHDBM-9db622f8 GRCh38 chr11 113340606,113340647 2.4973 0.0982 ALFRED -mh11KK-040 MHDBM-3d69621c GRCh38 chr11 113393747,113393788 2.3026 0.181 ALFRED -mh11AT-23 MHDBM-3d69621c GRCh38 chr11 113393747,113393788 2.3026 0.181 ISFG2019:P597 -mh11KK-089 MHDBM-b4e02ca7 GRCh38 chr11 113411552,113411572 2.3311 0.077 ALFRED +mh11KK-040 MHDBM-3d69621c GRCh38 chr11 113393747,113393788 2.3026 0.1810 ALFRED +mh11AT-23 MHDBM-3d69621c GRCh38 chr11 113393747,113393788 2.3026 0.1810 ISFG2019:P597 +mh11KK-089 MHDBM-b4e02ca7 GRCh38 chr11 113411552,113411572 2.3311 0.0770 ALFRED mh11KK-041 MHDBM-b89e7c23 GRCh38 chr11 113412736,113412754 2.3966 0.1212 ALFRED -mh11KK-103 MHDBM-ea10d42c GRCh38 chr11 113418314,113418343,113418459,113418575 2.5799 0.237 ALFRED +mh11KK-103 MHDBM-ea10d42c GRCh38 chr11 113418314,113418343,113418459,113418575 2.5799 0.2370 ALFRED mh11KK-090 MHDBM-f67cb0d4 GRCh38 chr11 113425551,113425563 1.5968 0.0751 ALFRED mh11KK-091 MHDBM-d896ebf8 GRCh38 chr11 113475528,113475628 1.8058 0.1445 ALFRED -mh11USC-11qC MHDBM-e7b73270 GRCh38 chr11 129407382,129407396,129407418 3.0790 0.094 10.1016/j.fsigen.2019.102213 +mh11USC-11qC MHDBM-e7b73270 GRCh38 chr11 129407382,129407396,129407418 3.0790 0.0940 10.1016/j.fsigen.2019.102213 mh12CP-008 MHDBM-003a7083 GRCh38 chr12 1996655,1996658,1996688 4.1092 0.0918 ALFRED mh12NH-20 MHDBM-762a0625 GRCh38 chr12 2201285,2201362,2201384,2201449 1.7802 0.0178 10.1016/j.legalmed.2015.06.003 mh12KK-043 MHDBM-be819645 GRCh38 chr12 3599332,3599379,3599442 2.4609 0.1136 ALFRED -mh12USC-12pA MHDBM-d8af0d64 GRCh38 chr12 6471061,6471082,6471106,6471147 3.5261 0.21 10.1016/j.fsigen.2019.102213 +mh12USC-12pA MHDBM-d8af0d64 GRCh38 chr12 6471061,6471082,6471106,6471147 3.5261 0.2100 10.1016/j.fsigen.2019.102213 mh12KK-092 MHDBM-d13e1d9a GRCh38 chr12 6796014,6796097 1.9462 0.0471 ALFRED mh12USC-12pB MHDBM-734a9296 GRCh38 chr12 29994612,29994629,29994637 2.9231 0.1099 10.1016/j.fsigen.2019.102213 mh12KK-202 MHDBM-29c66960 GRCh38 chr12 30017295,30017372,30017425,30017448 3.1564 0.0962 ALFRED @@ -263,7 +263,7 @@ mh12KK-045 MHDBM-596da7ff GRCh38 chr12 102866855,102867040 2.3015 0.2104 ALFRED mh12KK-042 MHDBM-f4df5b1c GRCh38 chr12 111555907,111556081 2.0035 0.2313 ALFRED mh12KK-046 MHDBM-8a9913c2 GRCh38 chr12 118451682,118451753 3.1163 0.1358 ALFRED mh12AT-25 MHDBM-8a9913c2 GRCh38 chr12 118451682,118451753 3.1163 0.1358 ISFG2019:P597 -mh12CP-003 MHDBM-26405ce1 GRCh38 chr12 129135548,129135549,129135561 2.9322 0.0773 10.1016/j.fsigen.2019.02.018 +mh12CP-003 MHDBM-26405ce1 GRCh38 chr12 129135548,129135549,129135561 2.9323 0.0773 10.1016/j.fsigen.2019.02.018 mh13KK-213 MHDBM-d5615acf GRCh38 chr13 23191401,23191495,23191541 4.0188 0.1518 ALFRED mh13AT-26 MHDBM-3dff744b GRCh38 chr13 23191461,23191495,23191541 3.5316 0.1635 ISFG2019:P597 mh13CP-008 MHDBM-021d5e78 GRCh38 chr13 24343962,24343985,24343993 3.0655 0.1661 ALFRED @@ -274,8 +274,8 @@ mh13AT-27 MHDBM-43558871 GRCh38 chr13 46291948,46291986 2.5160 0.0614 ISFG2019:P mh13KK-047 MHDBM-77c0086f GRCh38 chr13 50313423,50313588 2.3896 0.1949 ALFRED mh13KK-218 MHDBM-d645f595 GRCh38 chr13 53486691,53486745,53486756,53486836 7.2252 0.2687 ALFRED mh13USC-13qB MHDBM-ed4ee582 GRCh38 chr13 63435472,63435478,63435498,63435532 3.7038 0.1532 10.1016/j.fsigen.2019.102213 -mh13KK-225 MHDBM-4f77d482 GRCh38 chr13 66138599,66138657,66138695 3.4263 0.1181 ALFRED -mh13LV-10 MHDBM-c831d388 GRCh38 chr13 70291859,70291862,70291863,70291871,70291875,70291919,70291931,70291932,70291933,70291934,70291946,70291965,70291983,70291990,70291999,70292013,70292052 9.6136 0.532 10.1016/j.fsigen.2018.05.001 +mh13KK-225 MHDBM-4f77d482 GRCh38 chr13 66138599,66138657,66138695 3.4264 0.1181 ALFRED +mh13LV-10 MHDBM-c831d388 GRCh38 chr13 70291859,70291862,70291863,70291871,70291875,70291919,70291931,70291932,70291933,70291934,70291946,70291965,70291983,70291990,70291999,70292013,70292052 9.6136 0.5320 10.1016/j.fsigen.2018.05.001 mh13USC-13qC MHDBM-bc455428 GRCh38 chr13 85333526,85333532,85333537,85333544 3.0932 0.1236 10.1016/j.fsigen.2019.102213 mh13KK-226 MHDBM-7b8c12e3 GRCh38 chr13 94894395,94894512 2.0022 0.2116 ALFRED mh13KK-223 MHDBM-4088f2e4 GRCh38 chr13 110154351,110154394,110154411,110154504 4.0458 0.1173 ALFRED @@ -295,28 +295,28 @@ mh14USC-14qD MHDBM-14040a39 GRCh38 chr14 97762484,97762487,97762497 2.8059 0.200 mh14KK-101 MHDBM-132db0af GRCh38 chr14 105543139,105543234 1.7532 0.3666 ALFRED mh15PK-75170 MHDBM-dc55cd9e GRCh38 chr15 24802313,24802319,24802320,24802331,24802336,24802338,24802344,24802348,24802364,24802366,24802374,24802376,24802379 10.1016/j.fsigen.2018.05.008 mh15KK-068 MHDBM-10135880 GRCh38 chr15 27951674,27951890 1.8539 0.2901 ALFRED -mh15KK-069 MHDBM-b18948cd GRCh38 chr15 27984950,27985037 2.1635 0.2302 ALFRED +mh15KK-069 MHDBM-b18948cd GRCh38 chr15 27984950,27985037 2.1636 0.2302 ALFRED mh15KK-058 MHDBM-d6c594d2 GRCh38 chr15 28120284,28120471,28120586 2.2110 0.3799 ALFRED mh15USC-15qA MHDBM-70d85d8a GRCh38 chr15 33639028,33639029,33639063,33639111 3.8458 0.1564 10.1016/j.fsigen.2019.102213 mh15CP-001 MHDBM-e74afe73 GRCh38 chr15 40076158,40076160,40076162 3.3690 0.0683 ALFRED mh15CP-004 MHDBM-3bd729bb GRCh38 chr15 43509825,43509839,43509872 2.2061 0.2382 ALFRED mh15KK-067 MHDBM-e14f7d72 GRCh38 chr15 46578535,46578656 2.9062 0.1986 ALFRED -mh15AT-31 MHDBM-2374bfc6 GRCh38 chr15 46578535,46578630,46578656 3.3742 0.211 ISFG2019:P597 +mh15AT-31 MHDBM-2374bfc6 GRCh38 chr15 46578535,46578630,46578656 3.3742 0.2110 ISFG2019:P597 mh15CP-003 MHDBM-c2b1818c GRCh38 chr15 47831252,47831292,47831295 2.0431 0.1915 ALFRED mh15KK-095 MHDBM-8efcee47 GRCh38 chr15 48122771,48122870 1.9264 0.1947 ALFRED -mh15KK-066 MHDBM-882c69bf GRCh38 chr15 52192752,52192826 3.1079 0.134 ALFRED -mh15AT-32 MHDBM-882c69bf GRCh38 chr15 52192752,52192826 3.1079 0.134 ISFG2019:P597 +mh15KK-066 MHDBM-882c69bf GRCh38 chr15 52192752,52192826 3.1079 0.1340 ALFRED +mh15AT-32 MHDBM-882c69bf GRCh38 chr15 52192752,52192826 3.1079 0.1340 ISFG2019:P597 mh15USC-15qB MHDBM-956e152a GRCh38 chr15 61473268,61473320,61473326 2.8538 0.1972 10.1016/j.fsigen.2019.102213 mh15KK-104 MHDBM-10729ce3 GRCh38 chr15 63806357,63806413,63806494 2.3577 0.2823 ALFRED mh15USC-15qC MHDBM-bdbaeb04 GRCh38 chr15 80292254,80292324,80292331 3.0501 0.2069 10.1016/j.fsigen.2019.102213 mh15USC-15qD MHDBM-e182c338 GRCh38 chr15 97712697,97712703,97712738,97712747 2.8421 0.2805 10.1016/j.fsigen.2019.102213 mh16KK-049 MHDBM-9da28473 GRCh38 chr16 7159206,7159245,7159265,7159309,7159379 4.4743 0.1576 ALFRED -mh16AT-33 MHDBM-830c34ca GRCh38 chr16 7159206,7159245,7159265 2.9913 0.124 ISFG2019:P597 +mh16AT-33 MHDBM-830c34ca GRCh38 chr16 7159206,7159245,7159265 2.9913 0.1240 ISFG2019:P597 mh16KK-302 MHDBM-3a410e27 GRCh38 chr16 7537731,7537743,7537801,7537844 3.0255 0.2461 ALFRED mh16CP-001 MHDBM-4d9f4854 GRCh38 chr16 8781671,8781673,8781687,8781727,8781747 3.4305 0.1054 10.1016/j.fsigen.2019.02.018 mh16USC-16pA MHDBM-a364c34b GRCh38 chr16 9581410,9581419,9581424,9581450 3.0909 0.1981 10.1016/j.fsigen.2019.102213 mh16USC-16pB MHDBM-ed27afef GRCh38 chr16 24314926,24314936 2.6670 0.0751 10.1016/j.fsigen.2019.102213 -mh16KK-053 MHDBM-80528774 GRCh38 chr16 31087678,31087689 1.4044 0.438 ALFRED +mh16KK-053 MHDBM-80528774 GRCh38 chr16 31087678,31087689 1.4044 0.4380 ALFRED mh16USC-16qA MHDBM-c0a82420 GRCh38 chr16 60999359,60999366,60999375 3.0070 0.1408 10.1016/j.fsigen.2019.102213 mh16PK-83362 MHDBM-7303e6d0 GRCh38 chr16 77999242,77999261,77999270,77999274,77999281,77999282,77999288,77999291 2.3252 0.1388 10.1016/j.fsigen.2018.05.008 mh16KK-255 MHDBM-d61ecba6 GRCh38 chr16 81936747,81936760,81936801,81936889 3.7200 0.1733 ALFRED @@ -325,10 +325,10 @@ mh16USC-16qB MHDBM-a611b4d9 GRCh38 chr16 82548846,82548921,82548934 3.1520 0.102 mh16PK-83483 MHDBM-51163f6e GRCh38 chr16 84516828,84516829,84516830,84516845,84516874,84516880,84516887,84516893,84516898 2.9703 0.2089 10.1016/j.fsigen.2018.05.008 mh16PK-83544 MHDBM-c80956b4 GRCh38 chr16 85934074,85934082,85934105,85934115,85934128,85934137 3.1307 0.1018 10.1016/j.fsigen.2018.05.008 mh16KK-061 MHDBM-4cc47c4a GRCh38 chr16 87447772,87447821 2.5816 0.2182 ALFRED -mh16KK-062 MHDBM-69423f7f GRCh38 chr16 87468088,87468129,87468385 2.3563 0.3633 ALFRED +mh16KK-062 MHDBM-69423f7f GRCh38 chr16 87468088,87468129,87468385 2.3562 0.3633 ALFRED mh16KK-096 MHDBM-7dacf420 GRCh38 chr16 89919708,89919745 1.3676 0.2152 ALFRED mh17CP-002 MHDBM-cee77cfe GRCh38 chr17 2036207,2036208,2036248 2.5303 0.1619 10.1016/j.fsigen.2019.02.018 -mh17USC-17pA MHDBM-d5646523 GRCh38 chr17 3918624,3918658,3918693 2.9956 0.263 10.1016/j.fsigen.2019.102213 +mh17USC-17pA MHDBM-d5646523 GRCh38 chr17 3918624,3918658,3918693 2.9956 0.2630 10.1016/j.fsigen.2019.102213 mh17KK-014 MHDBM-83a239de GRCh38 chr17 4497060,4497088,4497096 2.0215 0.6423 ALFRED mh17CP-001 MHDBM-9d093450 GRCh38 chr17 11308466,11308492,11308502 3.4663 0.0681 ALFRED mh17CP-006 MHDBM-6ca2e148 GRCh38 chr17 15385768,15385781,15385817 3.0788 0.0582 ALFRED @@ -337,7 +337,7 @@ mh17USC-17qA MHDBM-cd7a9041 GRCh38 chr17 27762200,27762204,27762238,27762287 3.5 mh17KK-052 MHDBM-c36ecfec GRCh38 chr17 45394954,45395140 2.7946 0.0848 ALFRED mh17KK-076 MHDBM-c1787548 GRCh38 chr17 45658111,45658151 1.2002 0.0651 ALFRED mh17KK-077 MHDBM-40474c38 GRCh38 chr17 45777789,45777861 2.0724 0.0982 ALFRED -mh17KK-105 MHDBM-78a6dffc GRCh38 chr17 45996522,45996606,45996651 1.3010 0.07 ALFRED +mh17KK-105 MHDBM-78a6dffc GRCh38 chr17 45996522,45996606,45996651 1.3010 0.0700 ALFRED mh17KK-053 MHDBM-46b4a872 GRCh38 chr17 47618465,47618547 2.1412 0.0603 ALFRED mh17KK-054 MHDBM-f4474b7c GRCh38 chr17 49209704,49209746 2.7398 0.0523 ALFRED mh17AT-35 MHDBM-f4474b7c GRCh38 chr17 49209704,49209746 2.7398 0.0523 ISFG2019:P597 @@ -348,17 +348,17 @@ mh17KK-110 MHDBM-f8c66ec0 GRCh38 chr17 55486420,55486611 1.5197 0.0634 ALFRED mh17KK-055 MHDBM-97f41f6a GRCh38 chr17 78232489,78232548 2.7745 0.0293 ALFRED mh17USC-17qC MHDBM-c9406681 GRCh38 chr17 80946036,80946058,80946091,80946119 3.3880 0.0956 10.1016/j.fsigen.2019.102213 mh18PK-87558 MHDBM-1e5374f1 GRCh38 chr18 1960542,1960557,1960561,1960566,1960582,1960588 2.3659 0.1325 10.1016/j.fsigen.2018.05.008 -mh18USC-18pA MHDBM-56dfa93b GRCh38 chr18 5280017,5280020,5280070,5280071,5280093 3.4330 0.213 10.1016/j.fsigen.2019.102213 +mh18USC-18pA MHDBM-56dfa93b GRCh38 chr18 5280017,5280020,5280070,5280071,5280093 3.4330 0.2130 10.1016/j.fsigen.2019.102213 mh18CP-005 MHDBM-a85754d3 GRCh38 chr18 8892864,8892893,8892896,8892907 3.6722 0.0904 ALFRED mh18KK-285 MHDBM-ea520d26 GRCh38 chr18 24557354,24557431,24557447,24557489 2.7524 0.1721 ALFRED mh18AT-38 MHDBM-db09ec41 GRCh38 chr18 24557431,24557447,24557489 2.7093 0.1419 ISFG2019:P597 mh18CP-003 MHDBM-6fdf83f9 GRCh38 chr18 25488431,25488461,25488469 3.1124 0.1061 ALFRED mh18USC-18qA MHDBM-010d0f9c GRCh38 chr18 31141606,31141609,31141623 2.8734 0.0847 10.1016/j.fsigen.2019.102213 mh18USC-18qB MHDBM-14fcada5 GRCh38 chr18 53021128,53021158,53021170 3.1683 0.1449 10.1016/j.fsigen.2019.102213 -mh18USC-18qC MHDBM-6bf74efc GRCh38 chr18 66175286,66175304,66175320,66175325 3.2514 0.1436 10.1016/j.fsigen.2019.102213 +mh18USC-18qC MHDBM-6bf74efc GRCh38 chr18 66175286,66175304,66175320,66175325 3.2513 0.1436 10.1016/j.fsigen.2019.102213 mh18KK-293 MHDBM-13ed6da8 GRCh38 chr18 78329885,78329906,78329944,78329967 4.0036 0.2495 ALFRED mh18AT-39 MHDBM-13ed6da8 GRCh38 chr18 78329885,78329906,78329944,78329967 4.0036 0.2495 ISFG2019:P597 -mh19USC-19pA MHDBM-2d713eab GRCh38 chr19 561778,561795,561815 2.7453 0.087 10.1016/j.fsigen.2019.102213 +mh19USC-19pA MHDBM-2d713eab GRCh38 chr19 561778,561795,561815 2.7453 0.0870 10.1016/j.fsigen.2019.102213 mh19KK-056 MHDBM-d6ff8635 GRCh38 chr19 4852124,4852324 2.4391 0.0773 ALFRED mh19CP-007 MHDBM-49dbcc57 GRCh38 chr19 14310739,14310772,14310780 3.0813 0.0466 ALFRED mh19USC-19pB MHDBM-76427274 GRCh38 chr19 16040864,16040894,16040899,16040921,16040929 3.5107 0.1647 10.1016/j.fsigen.2019.102213 @@ -378,8 +378,8 @@ mh20USC-20pB MHDBM-fa9bf81b GRCh38 chr20 23104395,23104401,23104453 2.2363 0.128 mh20NH-24 MHDBM-49e3d308 GRCh38 chr20 23565698,23565724,23565752 1.8249 0.0823 10.1016/j.legalmed.2015.06.003 mh20NH-25 MHDBM-97598f06 GRCh38 chr20 23566233,23566272,23566303 2.4653 0.1827 10.1016/j.legalmed.2015.06.003 mh20USC-20qA MHDBM-2d438adf GRCh38 chr20 39401688,39401696,39401709 2.9375 0.1607 10.1016/j.fsigen.2019.102213 -mh20NH-26 MHDBM-d01dcc53 GRCh38 chr20 45330145,45330209,45330231 2.5503 0.068 10.1016/j.legalmed.2015.06.003 -mh20KK-058 MHDBM-a5b17521 GRCh38 chr20 50227722,50227755,50227827 2.7342 0.125 ALFRED +mh20NH-26 MHDBM-d01dcc53 GRCh38 chr20 45330145,45330209,45330231 2.5503 0.0680 10.1016/j.legalmed.2015.06.003 +mh20KK-058 MHDBM-a5b17521 GRCh38 chr20 50227722,50227755,50227827 2.7342 0.1250 ALFRED mh20KK-059 MHDBM-214bcf7b GRCh38 chr20 61128861,61128957 2.0291 0.0291 ALFRED mh20USC-20qB MHDBM-3802c468 GRCh38 chr20 62516293,62516304,62516313,62516338 3.2928 0.1384 10.1016/j.fsigen.2019.102213 mh20KK-016 MHDBM-723361d8 GRCh38 chr20 63539944,63539991,63540067,63540153,63540202 2.6174 0.6041 ALFRED @@ -387,14 +387,14 @@ mh21USC-21qA MHDBM-d0b1a9c2 GRCh38 chr21 14526884,14526901,14526930,14526953 3.2 mh21KK-315 MHDBM-e965ffea GRCh38 chr21 20507773,20507878,20507918 4.3647 0.1292 ALFRED mh21AT-41 MHDBM-b7d5b650 GRCh38 chr21 20507878,20507918 3.3100 0.0731 ISFG2019:P597 mh21KK-316 MHDBM-0c544728 GRCh38 chr21 26410648,26410672,26410719,26410782 3.1248 0.2549 ALFRED -mh21USC-21qB MHDBM-f61f047b GRCh38 chr21 38923139,38923144,38923165 2.8828 0.1349 10.1016/j.fsigen.2019.102213 +mh21USC-21qB MHDBM-f61f047b GRCh38 chr21 38923139,38923144,38923165 2.8829 0.1349 10.1016/j.fsigen.2019.102213 mh21PK-MX1s MHDBM-c2dc67e9 GRCh38 chr21 41464744,41464757,41464801,41464823 2.0415 0.1729 10.1016/j.fsigen.2018.05.008 mh21KK-320 MHDBM-c41fae2b GRCh38 chr21 41642698,41642768,41642857,41642883 5.0586 0.1583 ALFRED mh21AT-43 MHDBM-6f6edd94 GRCh38 chr21 41642698,41642768 2.7427 0.0372 ISFG2019:P597 mh21KK-313 MHDBM-922a888f GRCh38 chr21 42522024,42522138,42522196 2.5316 0.2669 ALFRED mh21KK-324 MHDBM-eb207470 GRCh38 chr21 45294633,45294725,45294776,45294791 4.5506 0.3071 ALFRED mh21AT-44 MHDBM-6d9a901e GRCh38 chr21 45294725,45294776 2.9555 0.0938 ISFG2019:P597 -mh22KK-303 MHDBM-75e3582d GRCh38 chr22 19962711,19962739,19962744,19962805 2.1515 0.097 ALFRED +mh22KK-303 MHDBM-75e3582d GRCh38 chr22 19962711,19962739,19962744,19962805 2.1515 0.0970 ALFRED mh22KK-060 MHDBM-e1ccbf64 GRCh38 chr22 19963683,19963747 2.6399 0.0779 ALFRED mh22AT-45 MHDBM-7624d794 GRCh38 chr22 19963683,19963713,19963747 2.8240 0.0986 ISFG2019:P597 mh22NH-27 MHDBM-491bb888 GRCh38 chr22 23075490,23075525,23075571 2.9133 0.1174 10.1016/j.legalmed.2015.06.003 @@ -405,12 +405,12 @@ mh22KK-061 MHDBM-798d33f6 GRCh38 chr22 44367725,44367770,44367871 3.5666 0.0711 mh22AT-46 MHDBM-e9b29778 GRCh38 chr22 44367725,44367770 2.5314 0.0275 ISFG2019:P597 mh22PK-104638 MHDBM-eb63e78f GRCh38 chr22 44857882,44857883,44857884,44857891,44857892,44857893,44857907,44857930,44857946,44857949,44857950,44857954 10.1016/j.fsigen.2018.05.008 mh22USC-22qB MHDBM-84c38e1d GRCh38 chr22 48665163,48665174,48665181,48665203,48665215 4.3459 0.2916 10.1016/j.fsigen.2019.102213 -mh0XUSC-XpA MHDBM-a01902db GRCh38 chrX 5459544,5459573,5459583 2.6707 0.217 10.1016/j.fsigen.2019.102213 +mh0XUSC-XpA MHDBM-a01902db GRCh38 chrX 5459544,5459573,5459583 2.6707 0.2170 10.1016/j.fsigen.2019.102213 mh0XUSC-XpB MHDBM-4de0816f GRCh38 chrX 12199350,12199375,12199397 2.6792 0.1952 10.1016/j.fsigen.2019.102213 mh0XUSC-XpC MHDBM-4c1069ee GRCh38 chrX 22545206,22545208,22545232,22545253 2.7455 0.1328 10.1016/j.fsigen.2019.102213 mh0XUSC-XqA MHDBM-e0f4370e GRCh38 chrX 71145054,71145135 2.3045 0.1627 10.1016/j.fsigen.2019.102213 mh0XUSC-XqB MHDBM-0eb4ebe1 GRCh38 chrX 79887503,79887505,79887511 2.4863 0.2666 10.1016/j.fsigen.2019.102213 -mh0XUSC-XqC MHDBM-7afc571c GRCh38 chrX 86322184,86322186,86322256 2.3879 0.111 10.1016/j.fsigen.2019.102213 +mh0XUSC-XqC MHDBM-7afc571c GRCh38 chrX 86322184,86322186,86322256 2.3879 0.1110 10.1016/j.fsigen.2019.102213 mh0XUSC-XqD MHDBM-d52d6e67 GRCh38 chrX 94276382,94276409,94276443 10.1016/j.fsigen.2019.102213 mh0XUSC-XqE MHDBM-2a78923d GRCh38 chrX 112447273,112447278 2.1523 0.1242 10.1016/j.fsigen.2019.102213 mh0XUSC-XqF MHDBM-6ce44345 GRCh38 chrX 120209670,120209745 1.8426 0.2895 10.1016/j.fsigen.2019.102213 diff --git a/dbbuild/prep-dbs.sh b/dbbuild/prep-dbs.sh new file mode 100755 index 00000000..9da2ea9d --- /dev/null +++ b/dbbuild/prep-dbs.sh @@ -0,0 +1,70 @@ +#!/usr/bin/env bash +set -eo pipefail + +download_1kgp() +{ + local rootdir=$1 + local rooturl="ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/" + mkdir -p ${rootdir}/1000Genomes/ + for i in {1..22}; do + url="${rooturl}/ALL.chr${i}.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz" + filename="${rootdir}/1000Genomes/chr${i}.vcf.gz" + wget -O ${filename} ${url} + wget -O ${filename}.tbi ${url}.tbi + done + url="${rooturl}/ALL.chrX.phase3_shapeit2_mvncall_integrated_v1b.20130502.genotypes.vcf.gz" + filename="${rootdir}/1000Genomes/chrX.vcf.gz" + wget -O ${filename} ${url} + wget -O ${filename}.tbi ${url}.tbi +} + +index_1kgp() +{ + local rootdir=$1 + for i in {1..22} X; do + prefix=${rootdir}/1000Genomes/chr${i} + rsidx index ${prefix}.vcf.gz ${prefix}.rsidx + done +} + +download_grch38() +{ + local rootdir=$1 + wget -O ${rootdir}/hg38.fa.gz http://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/hg38.fa.gz + gunzip ${rootdir}/hg38.fa.gz +} + +download_dbsnp() +{ + local rootdir=$1 + local rooturl="https://ftp.ncbi.nlm.nih.gov/snp/organisms/" + mkdir -p ${rootdir}/dbSNP/ + url="${rooturl}/human_9606_b151_GRCh37p13/VCF/All_20180423.vcf.gz" + filename="${rootdir}/dbSNP/dbSNP_GRCh37.vcf.gz" + wget -O ${filename} ${url} + wget -O ${filename}.tbi ${url}.tbi + url="${rooturl}/human_9606_b151_GRCh38p7/VCF/All_20180418.vcf.gz" + filename="${rootdir}/dbSNP/dbSNP_GRCh38.vcf.gz" + wget -O ${filename} ${url} + wget -O ${filename}.tbi ${url}.tbi +} + +index_dbsnp() +{ + local rootdir=$1 + for version in GRCh37 GRCh38; do + prefix=${rootdir}/dbSNP/dbSNP_${version} + rsidx index --cache-size 100000 ${prefix}.vcf.gz ${prefix}.rsidx + done +} + +dbdir=${1:-databases} + +mkdir -p $dbdir + +download_grch38 $dbdir +download_1kgp $dbdir +download_dbsnp $dbdir + +index_dbsnp $dbdir +index_1kgp $dbdir diff --git a/dbbuild/sources/1kgp/README.md b/dbbuild/sources/1kgp/README.md index 9b252377..29db4ae7 100644 --- a/dbbuild/sources/1kgp/README.md +++ b/dbbuild/sources/1kgp/README.md @@ -7,31 +7,19 @@ Auton A, Abecasis G, Altshuler D, et al. (2015) A global reference for human gen ## Build Process -The following software is required to compile the published data into the table format required by MicroHapDB. +Run `snakemake --cores 1 -p all` from the `dbbuild/sources/1kgp/` directory to compile the data into the table format required by MicroHapDB. -- Python 3 -- wget -- tabix (part of the [samtools/HTSlib project](https://github.com/samtools/htslib)) -- infocalc (included in this directory) -- [pandas][] -- [rsidx][] -- [scikit-allel][] -- [Snakemake][] -Run the following commands from the `dbbuild/sources/1kgp/` directory to compile the data into the table format required by MicroHapDB. +## Appendix -```bash -snakemake -p all -``` - -## Manual Pre-processing +### Manual Pre-processing The `population.tsv` file was copied, pasted, and edited manually from the ISGR at https://www.internationalgenome.org/faq/which-populations-are-part-your-study/. The `sample-pops.tsv` file was created by downloading `original/20130606_sample_info.xlsx` from [this page](https://www.internationalgenome.org/faq/which-samples-are-you-sequencing/) (URL: ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/working/20130606_sample_info/20130606_sample_info.xlsx) and manually editing the relevant columns. -## Known Issues +### Known Issues The ALFRED database publishes 1GKP-derived frequencies for some markers. For many markers there is perfect agreement between ALFRED and MicroHapDB, but in some cases there are slight or notable differences. @@ -43,9 +31,3 @@ These markers are excluded from MicroHapDB's 1KGP frequency estimates. Some markers are defined by rsIDs that have been updated since the 1KGP Phase 3 VCFs were published. For the purposes of estimating microhap frequencies, these variants are reverted to their old rsID. See `get-marker-rsids.py` for details. - - -[pandas]: https://pandas.pydata.org -[rsidx]: https://github.com/bioforensics/rsidx -[scikit-allel]: https://scikit-allel.readthedocs.io -[Snakemake]: https://snakemake.readthedocs.io/en/stable/ diff --git a/dbbuild/sources/1kgp/Snakefile b/dbbuild/sources/1kgp/Snakefile index 3a5e8377..21df1512 100644 --- a/dbbuild/sources/1kgp/Snakefile +++ b/dbbuild/sources/1kgp/Snakefile @@ -7,18 +7,33 @@ import pandas -rule all: - input: 'frequency.tsv', 'marker-informativeness.tsv', 'marker-fst.tsv' + +def compute_marker_ae(freqs): + aedata = {'Marker': list(), 'Population': list(), 'Ae': list()} + pops1kgp = set([ + 'CHB', 'JPT', 'CHS', 'CDX', 'KHV', 'CEU', 'TSI', 'FIN', 'GBR', 'IBS', 'YRI', 'LWK', 'GWD', + 'MSL', 'ESN', 'ASW', 'ACB', 'MXL', 'PUR', 'CLM', 'PEL', 'GIH', 'PJL', 'BEB', 'STU', 'ITU' + ]) + for marker, mdata in freqs[freqs.Population.isin(pops1kgp)].groupby('Marker'): + for population, pdata in mdata.groupby('Population'): + ae = 1.0 / sum([f ** 2 for f in pdata.Frequency]) + aedata['Marker'].append(marker) + aedata['Population'].append(population) + aedata['Ae'].append(ae) + return pandas.DataFrame(aedata).sort_values(['Marker', 'Population']) -rule download: - output: expand('ALL.chr{chrom}.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz', chrom=[n + 1 for n in range(22)]) - shell: './download.sh' +rule all: + input: 'frequency.tsv', 'marker-informativeness.tsv', 'marker-aes.tsv', 'marker-fst.tsv' -rule index: - output: expand('ALL.chr{chrom}.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.rsidx', chrom=[n + 1 for n in range(22)]) - shell: './index.sh' +rule aes: + input: 'frequency.tsv' + output: 'marker-aes.tsv' + run: + freqs = pandas.read_csv(input[0], sep='\t') + aedata = compute_marker_ae(freqs) + aedata.to_csv(output[0], sep='\t', index=False, float_format='%.4f') rule markerrsids: diff --git a/dbbuild/sources/1kgp/databases b/dbbuild/sources/1kgp/databases new file mode 120000 index 00000000..5f01a0a8 --- /dev/null +++ b/dbbuild/sources/1kgp/databases @@ -0,0 +1 @@ +../../databases \ No newline at end of file diff --git a/dbbuild/sources/1kgp/download.sh b/dbbuild/sources/1kgp/download.sh deleted file mode 100755 index a3ee83eb..00000000 --- a/dbbuild/sources/1kgp/download.sh +++ /dev/null @@ -1,14 +0,0 @@ -#!/usr/bin/env bash -set -e - -root="ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/" - -for i in {1..22}; do - filename="${root}/ALL.chr${i}.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz" - wget ${filename}.tbi - wget ${filename} -done - -filename="${root}/ALL.chrX.phase3_shapeit2_mvncall_integrated_v1b.20130502.genotypes.vcf.gz" -wget ${filename}.tbi -wget ${filename} diff --git a/dbbuild/sources/1kgp/index.sh b/dbbuild/sources/1kgp/index.sh deleted file mode 100755 index 58153f6d..00000000 --- a/dbbuild/sources/1kgp/index.sh +++ /dev/null @@ -1,7 +0,0 @@ -#!/usr/bin/env bash - -for vcf in ALL.chr*.vcf.gz; do - prefix=$(basename $vcf .vcf.gz) - rsidx=${prefix}.rsidx - rsidx index $vcf $rsidx -done diff --git a/dbbuild/sources/1kgp/marker-aes.tsv b/dbbuild/sources/1kgp/marker-aes.tsv new file mode 100644 index 00000000..74d67654 --- /dev/null +++ b/dbbuild/sources/1kgp/marker-aes.tsv @@ -0,0 +1,10713 @@ +Marker Population Ae +mh01AT-02 ACB 2.5212 +mh01AT-02 ASW 2.3248 +mh01AT-02 BEB 3.0386 +mh01AT-02 CDX 2.6924 +mh01AT-02 CEU 2.4691 +mh01AT-02 CHB 2.5603 +mh01AT-02 CHS 2.5292 +mh01AT-02 CLM 2.3397 +mh01AT-02 ESN 2.2399 +mh01AT-02 FIN 2.3000 +mh01AT-02 GBR 2.5832 +mh01AT-02 GIH 2.9565 +mh01AT-02 GWD 2.7126 +mh01AT-02 IBS 2.4853 +mh01AT-02 ITU 2.9934 +mh01AT-02 JPT 2.1401 +mh01AT-02 KHV 2.4735 +mh01AT-02 LWK 2.5448 +mh01AT-02 MSL 2.1374 +mh01AT-02 MXL 2.3303 +mh01AT-02 PEL 2.2923 +mh01AT-02 PJL 2.9511 +mh01AT-02 PUR 2.1120 +mh01AT-02 STU 2.9384 +mh01AT-02 TSI 2.6475 +mh01AT-02 YRI 2.5292 +mh01AT-03 ACB 2.9948 +mh01AT-03 ASW 3.1030 +mh01AT-03 BEB 2.8969 +mh01AT-03 CDX 2.9336 +mh01AT-03 CEU 2.1870 +mh01AT-03 CHB 3.3755 +mh01AT-03 CHS 3.3573 +mh01AT-03 CLM 2.9541 +mh01AT-03 ESN 2.7754 +mh01AT-03 FIN 2.4581 +mh01AT-03 GBR 2.4940 +mh01AT-03 GIH 2.6909 +mh01AT-03 GWD 2.8689 +mh01AT-03 IBS 2.2222 +mh01AT-03 ITU 2.5784 +mh01AT-03 JPT 3.2098 +mh01AT-03 KHV 2.9921 +mh01AT-03 LWK 2.9228 +mh01AT-03 MSL 3.0676 +mh01AT-03 MXL 2.4854 +mh01AT-03 PEL 2.6050 +mh01AT-03 PJL 3.0810 +mh01AT-03 PUR 2.5159 +mh01AT-03 STU 2.7367 +mh01AT-03 TSI 1.7809 +mh01AT-03 YRI 2.6129 +mh01AT-04 ACB 2.6439 +mh01AT-04 ASW 2.6120 +mh01AT-04 BEB 3.7657 +mh01AT-04 CDX 2.8063 +mh01AT-04 CEU 2.9215 +mh01AT-04 CHB 3.0441 +mh01AT-04 CHS 2.9027 +mh01AT-04 CLM 3.4113 +mh01AT-04 ESN 2.8002 +mh01AT-04 FIN 3.1950 +mh01AT-04 GBR 2.7914 +mh01AT-04 GIH 3.4159 +mh01AT-04 GWD 2.9760 +mh01AT-04 IBS 2.7083 +mh01AT-04 ITU 3.3663 +mh01AT-04 JPT 2.9628 +mh01AT-04 KHV 2.8503 +mh01AT-04 LWK 3.0614 +mh01AT-04 MSL 2.9637 +mh01AT-04 MXL 3.7480 +mh01AT-04 PEL 3.1183 +mh01AT-04 PJL 2.9291 +mh01AT-04 PUR 3.3912 +mh01AT-04 STU 3.5039 +mh01AT-04 TSI 2.7212 +mh01AT-04 YRI 2.8255 +mh01CP-007 ACB 2.3698 +mh01CP-007 ASW 2.3201 +mh01CP-007 BEB 2.6988 +mh01CP-007 CDX 3.1045 +mh01CP-007 CEU 2.5997 +mh01CP-007 CHB 3.4025 +mh01CP-007 CHS 3.2594 +mh01CP-007 CLM 2.5142 +mh01CP-007 ESN 2.2092 +mh01CP-007 FIN 2.6305 +mh01CP-007 GBR 2.4006 +mh01CP-007 GIH 2.8704 +mh01CP-007 GWD 2.4167 +mh01CP-007 IBS 2.7430 +mh01CP-007 ITU 3.1969 +mh01CP-007 JPT 3.0833 +mh01CP-007 KHV 3.6539 +mh01CP-007 LWK 2.3530 +mh01CP-007 MSL 2.2407 +mh01CP-007 MXL 2.3713 +mh01CP-007 PEL 2.1481 +mh01CP-007 PJL 2.5956 +mh01CP-007 PUR 2.5744 +mh01CP-007 STU 2.7040 +mh01CP-007 TSI 2.3164 +mh01CP-007 YRI 2.3027 +mh01CP-008 ACB 1.7716 +mh01CP-008 ASW 1.9463 +mh01CP-008 BEB 2.5590 +mh01CP-008 CDX 2.8864 +mh01CP-008 CEU 2.5577 +mh01CP-008 CHB 3.2116 +mh01CP-008 CHS 3.1677 +mh01CP-008 CLM 2.8304 +mh01CP-008 ESN 1.8353 +mh01CP-008 FIN 3.0444 +mh01CP-008 GBR 2.8878 +mh01CP-008 GIH 1.9626 +mh01CP-008 GWD 1.6675 +mh01CP-008 IBS 2.6846 +mh01CP-008 ITU 1.7931 +mh01CP-008 JPT 3.5458 +mh01CP-008 KHV 3.1292 +mh01CP-008 LWK 1.9694 +mh01CP-008 MSL 2.0625 +mh01CP-008 MXL 2.7776 +mh01CP-008 PEL 3.1391 +mh01CP-008 PJL 1.8901 +mh01CP-008 PUR 2.6229 +mh01CP-008 STU 2.2691 +mh01CP-008 TSI 2.0481 +mh01CP-008 YRI 1.8929 +mh01CP-010 ACB 2.9557 +mh01CP-010 ASW 2.8791 +mh01CP-010 BEB 2.2641 +mh01CP-010 CDX 3.3972 +mh01CP-010 CEU 2.3661 +mh01CP-010 CHB 2.9642 +mh01CP-010 CHS 3.2719 +mh01CP-010 CLM 2.6797 +mh01CP-010 ESN 2.8110 +mh01CP-010 FIN 2.1613 +mh01CP-010 GBR 2.3937 +mh01CP-010 GIH 2.1398 +mh01CP-010 GWD 2.6460 +mh01CP-010 IBS 2.6007 +mh01CP-010 ITU 2.2917 +mh01CP-010 JPT 2.8387 +mh01CP-010 KHV 3.4762 +mh01CP-010 LWK 2.9714 +mh01CP-010 MSL 2.9750 +mh01CP-010 MXL 2.5637 +mh01CP-010 PEL 2.2928 +mh01CP-010 PJL 2.1614 +mh01CP-010 PUR 2.7797 +mh01CP-010 STU 2.0843 +mh01CP-010 TSI 2.5925 +mh01CP-010 YRI 2.9179 +mh01CP-012 ACB 3.1061 +mh01CP-012 ASW 3.3250 +mh01CP-012 BEB 3.1653 +mh01CP-012 CDX 3.1406 +mh01CP-012 CEU 2.1642 +mh01CP-012 CHB 2.7022 +mh01CP-012 CHS 2.8630 +mh01CP-012 CLM 2.5376 +mh01CP-012 ESN 2.6028 +mh01CP-012 FIN 2.5898 +mh01CP-012 GBR 2.1598 +mh01CP-012 GIH 2.8836 +mh01CP-012 GWD 2.8456 +mh01CP-012 IBS 2.0997 +mh01CP-012 ITU 3.0923 +mh01CP-012 JPT 3.3995 +mh01CP-012 KHV 3.3047 +mh01CP-012 LWK 3.2830 +mh01CP-012 MSL 3.0711 +mh01CP-012 MXL 2.2623 +mh01CP-012 PEL 2.5043 +mh01CP-012 PJL 2.7484 +mh01CP-012 PUR 2.4404 +mh01CP-012 STU 3.0523 +mh01CP-012 TSI 2.0197 +mh01CP-012 YRI 3.2459 +mh01CP-016 ACB 2.6543 +mh01CP-016 ASW 2.9918 +mh01CP-016 BEB 2.8591 +mh01CP-016 CDX 2.9555 +mh01CP-016 CEU 3.0496 +mh01CP-016 CHB 3.1364 +mh01CP-016 CHS 3.2765 +mh01CP-016 CLM 3.1698 +mh01CP-016 ESN 2.5619 +mh01CP-016 FIN 3.4209 +mh01CP-016 GBR 3.0302 +mh01CP-016 GIH 2.9358 +mh01CP-016 GWD 2.5109 +mh01CP-016 IBS 3.0395 +mh01CP-016 ITU 2.4800 +mh01CP-016 JPT 3.6662 +mh01CP-016 KHV 2.8765 +mh01CP-016 LWK 2.5290 +mh01CP-016 MSL 2.8183 +mh01CP-016 MXL 2.2778 +mh01CP-016 PEL 2.1645 +mh01CP-016 PJL 2.3391 +mh01CP-016 PUR 3.2914 +mh01CP-016 STU 2.6439 +mh01CP-016 TSI 3.0890 +mh01CP-016 YRI 2.5503 +mh01KK-001 ACB 3.0945 +mh01KK-001 ASW 3.1214 +mh01KK-001 BEB 4.1390 +mh01KK-001 CDX 2.3883 +mh01KK-001 CEU 2.9622 +mh01KK-001 CHB 2.6441 +mh01KK-001 CHS 2.5826 +mh01KK-001 CLM 3.2387 +mh01KK-001 ESN 2.3137 +mh01KK-001 FIN 3.9580 +mh01KK-001 GBR 2.7362 +mh01KK-001 GIH 4.3328 +mh01KK-001 GWD 2.4727 +mh01KK-001 IBS 3.2104 +mh01KK-001 ITU 4.0265 +mh01KK-001 JPT 2.5211 +mh01KK-001 KHV 2.3962 +mh01KK-001 LWK 3.2001 +mh01KK-001 MSL 2.4356 +mh01KK-001 MXL 3.3489 +mh01KK-001 PEL 2.2949 +mh01KK-001 PJL 4.1783 +mh01KK-001 PUR 3.5327 +mh01KK-001 STU 3.9631 +mh01KK-001 TSI 3.6111 +mh01KK-001 YRI 2.9911 +mh01KK-002 ACB 1.7243 +mh01KK-002 ASW 2.0447 +mh01KK-002 BEB 3.6852 +mh01KK-002 CDX 1.8591 +mh01KK-002 CEU 3.3256 +mh01KK-002 CHB 2.1446 +mh01KK-002 CHS 1.6993 +mh01KK-002 CLM 3.1949 +mh01KK-002 ESN 1.3950 +mh01KK-002 FIN 3.3952 +mh01KK-002 GBR 3.4921 +mh01KK-002 GIH 3.8130 +mh01KK-002 GWD 1.6488 +mh01KK-002 IBS 3.2583 +mh01KK-002 ITU 3.6722 +mh01KK-002 JPT 2.0980 +mh01KK-002 KHV 1.6261 +mh01KK-002 LWK 1.9220 +mh01KK-002 MSL 1.6916 +mh01KK-002 MXL 3.2514 +mh01KK-002 PEL 2.9312 +mh01KK-002 PJL 3.7417 +mh01KK-002 PUR 3.5230 +mh01KK-002 STU 3.9073 +mh01KK-002 TSI 2.9470 +mh01KK-002 YRI 1.4174 +mh01KK-070 ACB 2.6131 +mh01KK-070 ASW 2.6147 +mh01KK-070 BEB 1.9901 +mh01KK-070 CDX 1.7668 +mh01KK-070 CEU 1.7884 +mh01KK-070 CHB 1.5303 +mh01KK-070 CHS 1.3600 +mh01KK-070 CLM 1.3627 +mh01KK-070 ESN 2.5230 +mh01KK-070 FIN 1.7660 +mh01KK-070 GBR 1.8163 +mh01KK-070 GIH 1.9464 +mh01KK-070 GWD 2.4109 +mh01KK-070 IBS 1.6894 +mh01KK-070 ITU 1.9908 +mh01KK-070 JPT 1.4137 +mh01KK-070 KHV 1.6400 +mh01KK-070 LWK 2.5707 +mh01KK-070 MSL 2.4693 +mh01KK-070 MXL 1.4795 +mh01KK-070 PEL 1.2239 +mh01KK-070 PJL 1.9464 +mh01KK-070 PUR 1.7128 +mh01KK-070 STU 1.8788 +mh01KK-070 TSI 1.7758 +mh01KK-070 YRI 2.4387 +mh01KK-072 ACB 1.6000 +mh01KK-072 ASW 1.7884 +mh01KK-072 BEB 1.6582 +mh01KK-072 CDX 1.3855 +mh01KK-072 CEU 1.8649 +mh01KK-072 CHB 1.8622 +mh01KK-072 CHS 1.6051 +mh01KK-072 CLM 1.9501 +mh01KK-072 ESN 1.6582 +mh01KK-072 FIN 1.8308 +mh01KK-072 GBR 1.8995 +mh01KK-072 GIH 1.7594 +mh01KK-072 GWD 1.6280 +mh01KK-072 IBS 1.9913 +mh01KK-072 ITU 1.6632 +mh01KK-072 JPT 1.8565 +mh01KK-072 KHV 1.5147 +mh01KK-072 LWK 1.8979 +mh01KK-072 MSL 1.6532 +mh01KK-072 MXL 1.9980 +mh01KK-072 PEL 1.7523 +mh01KK-072 PJL 1.6781 +mh01KK-072 PUR 1.9476 +mh01KK-072 STU 1.5872 +mh01KK-072 TSI 1.8267 +mh01KK-072 YRI 1.7906 +mh01KK-106 ACB 2.3510 +mh01KK-106 ASW 2.3196 +mh01KK-106 BEB 2.6850 +mh01KK-106 CDX 3.5210 +mh01KK-106 CEU 3.0883 +mh01KK-106 CHB 2.8800 +mh01KK-106 CHS 3.2033 +mh01KK-106 CLM 2.7681 +mh01KK-106 ESN 1.8904 +mh01KK-106 FIN 3.1869 +mh01KK-106 GBR 3.0166 +mh01KK-106 GIH 2.4231 +mh01KK-106 GWD 1.7119 +mh01KK-106 IBS 3.1844 +mh01KK-106 ITU 2.5912 +mh01KK-106 JPT 3.2212 +mh01KK-106 KHV 3.3360 +mh01KK-106 LWK 1.9356 +mh01KK-106 MSL 1.9716 +mh01KK-106 MXL 2.2564 +mh01KK-106 PEL 1.5388 +mh01KK-106 PJL 2.6108 +mh01KK-106 PUR 3.1775 +mh01KK-106 STU 2.5873 +mh01KK-106 TSI 3.1035 +mh01KK-106 YRI 2.0269 +mh01KK-117 ACB 3.4635 +mh01KK-117 ASW 4.0767 +mh01KK-117 BEB 6.6156 +mh01KK-117 CDX 3.4693 +mh01KK-117 CEU 5.3833 +mh01KK-117 CHB 4.2816 +mh01KK-117 CHS 4.2379 +mh01KK-117 CLM 3.8369 +mh01KK-117 ESN 3.6261 +mh01KK-117 FIN 4.3071 +mh01KK-117 GBR 4.7027 +mh01KK-117 GIH 6.4457 +mh01KK-117 GWD 3.6267 +mh01KK-117 IBS 4.9040 +mh01KK-117 ITU 5.8830 +mh01KK-117 JPT 3.8515 +mh01KK-117 KHV 4.2664 +mh01KK-117 LWK 4.3553 +mh01KK-117 MSL 3.6144 +mh01KK-117 MXL 4.0411 +mh01KK-117 PEL 3.0809 +mh01KK-117 PJL 5.5918 +mh01KK-117 PUR 4.6486 +mh01KK-117 STU 4.9391 +mh01KK-117 TSI 4.5811 +mh01KK-117 YRI 4.0382 +mh01KK-135 ACB 2.0246 +mh01KK-135 ASW 2.3675 +mh01KK-135 BEB 2.8930 +mh01KK-135 CDX 1.2140 +mh01KK-135 CEU 1.9746 +mh01KK-135 CHB 1.2059 +mh01KK-135 CHS 1.2775 +mh01KK-135 CLM 2.8889 +mh01KK-135 ESN 1.6866 +mh01KK-135 FIN 2.1341 +mh01KK-135 GBR 2.0025 +mh01KK-135 GIH 2.8821 +mh01KK-135 GWD 1.8035 +mh01KK-135 IBS 2.1594 +mh01KK-135 ITU 2.9841 +mh01KK-135 JPT 1.3487 +mh01KK-135 KHV 1.2683 +mh01KK-135 LWK 1.5986 +mh01KK-135 MSL 1.7230 +mh01KK-135 MXL 2.9140 +mh01KK-135 PEL 2.4091 +mh01KK-135 PJL 3.0169 +mh01KK-135 PUR 2.6907 +mh01KK-135 STU 2.9962 +mh01KK-135 TSI 2.1184 +mh01KK-135 YRI 1.7172 +mh01KK-172 ACB 2.7357 +mh01KK-172 ASW 3.2153 +mh01KK-172 BEB 3.3177 +mh01KK-172 CDX 3.2941 +mh01KK-172 CEU 2.2030 +mh01KK-172 CHB 3.2128 +mh01KK-172 CHS 2.9969 +mh01KK-172 CLM 3.6150 +mh01KK-172 ESN 2.5965 +mh01KK-172 FIN 2.3891 +mh01KK-172 GBR 2.4604 +mh01KK-172 GIH 3.5464 +mh01KK-172 GWD 2.3363 +mh01KK-172 IBS 2.7691 +mh01KK-172 ITU 3.0818 +mh01KK-172 JPT 2.9477 +mh01KK-172 KHV 3.1263 +mh01KK-172 LWK 2.8580 +mh01KK-172 MSL 2.1158 +mh01KK-172 MXL 3.2541 +mh01KK-172 PEL 2.9412 +mh01KK-172 PJL 3.3569 +mh01KK-172 PUR 3.5165 +mh01KK-172 STU 3.0743 +mh01KK-172 TSI 2.7432 +mh01KK-172 YRI 2.5014 +mh01KK-205 ACB 3.9769 +mh01KK-205 ASW 4.6924 +mh01KK-205 BEB 4.1094 +mh01KK-205 CDX 4.1169 +mh01KK-205 CEU 4.1322 +mh01KK-205 CHB 4.2851 +mh01KK-205 CHS 4.4597 +mh01KK-205 CLM 3.7465 +mh01KK-205 ESN 3.6961 +mh01KK-205 FIN 3.5168 +mh01KK-205 GBR 4.2838 +mh01KK-205 GIH 4.0218 +mh01KK-205 GWD 3.9731 +mh01KK-205 IBS 3.9604 +mh01KK-205 ITU 3.9568 +mh01KK-205 JPT 4.6046 +mh01KK-205 KHV 3.9318 +mh01KK-205 LWK 4.0676 +mh01KK-205 MSL 4.2252 +mh01KK-205 MXL 4.2029 +mh01KK-205 PEL 3.9914 +mh01KK-205 PJL 4.3762 +mh01KK-205 PUR 4.2627 +mh01KK-205 STU 3.3715 +mh01KK-205 TSI 4.0354 +mh01KK-205 YRI 3.7023 +mh01KK-210 ACB 1.7936 +mh01KK-210 ASW 1.9511 +mh01KK-210 BEB 2.6550 +mh01KK-210 CDX 2.8565 +mh01KK-210 CEU 1.7449 +mh01KK-210 CHB 2.3255 +mh01KK-210 CHS 2.5166 +mh01KK-210 CLM 2.7455 +mh01KK-210 ESN 1.9243 +mh01KK-210 FIN 1.7315 +mh01KK-210 GBR 2.0434 +mh01KK-210 GIH 2.5664 +mh01KK-210 GWD 2.1554 +mh01KK-210 IBS 1.7353 +mh01KK-210 ITU 2.3068 +mh01KK-210 JPT 2.0307 +mh01KK-210 KHV 2.9668 +mh01KK-210 LWK 1.8391 +mh01KK-210 MSL 1.5796 +mh01KK-210 MXL 2.4883 +mh01KK-210 PEL 2.4573 +mh01KK-210 PJL 2.5393 +mh01KK-210 PUR 2.1732 +mh01KK-210 STU 2.5385 +mh01KK-210 TSI 1.8828 +mh01KK-210 YRI 1.7109 +mh01KK-211 ACB 1.6744 +mh01KK-211 ASW 1.8332 +mh01KK-211 BEB 2.9269 +mh01KK-211 CDX 1.9163 +mh01KK-211 CEU 2.1693 +mh01KK-211 CHB 2.6786 +mh01KK-211 CHS 2.6454 +mh01KK-211 CLM 3.0301 +mh01KK-211 ESN 1.4917 +mh01KK-211 FIN 2.4226 +mh01KK-211 GBR 2.4872 +mh01KK-211 GIH 2.6718 +mh01KK-211 GWD 1.4853 +mh01KK-211 IBS 2.2172 +mh01KK-211 ITU 2.5518 +mh01KK-211 JPT 2.6180 +mh01KK-211 KHV 2.1756 +mh01KK-211 LWK 1.5969 +mh01KK-211 MSL 1.6932 +mh01KK-211 MXL 2.5604 +mh01KK-211 PEL 2.9292 +mh01KK-211 PJL 3.0335 +mh01KK-211 PUR 2.4695 +mh01KK-211 STU 2.7012 +mh01KK-211 TSI 1.7779 +mh01KK-211 YRI 1.3729 +mh01NH-01 ACB 2.9298 +mh01NH-01 ASW 3.0354 +mh01NH-01 BEB 2.2850 +mh01NH-01 CDX 2.0266 +mh01NH-01 CEU 1.9556 +mh01NH-01 CHB 1.9908 +mh01NH-01 CHS 2.0282 +mh01NH-01 CLM 2.2495 +mh01NH-01 ESN 2.8502 +mh01NH-01 FIN 2.0828 +mh01NH-01 GBR 2.3381 +mh01NH-01 GIH 2.3059 +mh01NH-01 GWD 2.5788 +mh01NH-01 IBS 2.5065 +mh01NH-01 ITU 2.3476 +mh01NH-01 JPT 1.9993 +mh01NH-01 KHV 1.9137 +mh01NH-01 LWK 2.4225 +mh01NH-01 MSL 2.8275 +mh01NH-01 MXL 2.1367 +mh01NH-01 PEL 2.1306 +mh01NH-01 PJL 2.2522 +mh01NH-01 PUR 2.3838 +mh01NH-01 STU 2.2855 +mh01NH-01 TSI 2.5055 +mh01NH-01 YRI 3.0596 +mh01NH-02 ACB 2.7873 +mh01NH-02 ASW 2.5017 +mh01NH-02 BEB 1.9958 +mh01NH-02 CDX 1.9201 +mh01NH-02 CEU 1.7993 +mh01NH-02 CHB 1.9810 +mh01NH-02 CHS 1.9743 +mh01NH-02 CLM 2.1092 +mh01NH-02 ESN 2.8248 +mh01NH-02 FIN 1.9359 +mh01NH-02 GBR 1.9331 +mh01NH-02 GIH 1.9810 +mh01NH-02 GWD 2.8176 +mh01NH-02 IBS 1.8894 +mh01NH-02 ITU 1.9982 +mh01NH-02 JPT 1.9697 +mh01NH-02 KHV 1.8622 +mh01NH-02 LWK 2.9428 +mh01NH-02 MSL 2.7491 +mh01NH-02 MXL 2.0003 +mh01NH-02 PEL 1.9853 +mh01NH-02 PJL 1.9980 +mh01NH-02 PUR 2.1840 +mh01NH-02 STU 1.9968 +mh01NH-02 TSI 1.7660 +mh01NH-02 YRI 2.8855 +mh01NH-03 ACB 2.1058 +mh01NH-03 ASW 2.1247 +mh01NH-03 BEB 1.8418 +mh01NH-03 CDX 2.2179 +mh01NH-03 CEU 1.5018 +mh01NH-03 CHB 2.1659 +mh01NH-03 CHS 2.2151 +mh01NH-03 CLM 1.6095 +mh01NH-03 ESN 1.9902 +mh01NH-03 FIN 1.6725 +mh01NH-03 GBR 1.4357 +mh01NH-03 GIH 1.8844 +mh01NH-03 GWD 1.9003 +mh01NH-03 IBS 1.3598 +mh01NH-03 ITU 1.8189 +mh01NH-03 JPT 2.4052 +mh01NH-03 KHV 2.5192 +mh01NH-03 LWK 2.0115 +mh01NH-03 MSL 1.9778 +mh01NH-03 MXL 2.0607 +mh01NH-03 PEL 1.9282 +mh01NH-03 PJL 1.8649 +mh01NH-03 PUR 2.0117 +mh01NH-03 STU 1.7726 +mh01NH-03 TSI 1.2304 +mh01NH-03 YRI 1.9958 +mh01NH-04 ACB 2.6439 +mh01NH-04 ASW 2.6120 +mh01NH-04 BEB 3.7657 +mh01NH-04 CDX 2.8063 +mh01NH-04 CEU 2.9215 +mh01NH-04 CHB 3.0441 +mh01NH-04 CHS 2.9027 +mh01NH-04 CLM 3.4113 +mh01NH-04 ESN 2.8002 +mh01NH-04 FIN 3.1950 +mh01NH-04 GBR 2.7914 +mh01NH-04 GIH 3.4159 +mh01NH-04 GWD 2.9760 +mh01NH-04 IBS 2.7083 +mh01NH-04 ITU 3.3663 +mh01NH-04 JPT 2.9628 +mh01NH-04 KHV 2.8503 +mh01NH-04 LWK 3.0614 +mh01NH-04 MSL 2.9637 +mh01NH-04 MXL 3.7480 +mh01NH-04 PEL 3.1183 +mh01NH-04 PJL 2.9291 +mh01NH-04 PUR 3.3912 +mh01NH-04 STU 3.5039 +mh01NH-04 TSI 2.7212 +mh01NH-04 YRI 2.8255 +mh01NK-001 ACB 2.9479 +mh01NK-001 ASW 2.8693 +mh01NK-001 BEB 3.9574 +mh01NK-001 CDX 2.8421 +mh01NK-001 CEU 3.2083 +mh01NK-001 CHB 3.0595 +mh01NK-001 CHS 2.9027 +mh01NK-001 CLM 4.0038 +mh01NK-001 ESN 2.9764 +mh01NK-001 FIN 3.4096 +mh01NK-001 GBR 2.8738 +mh01NK-001 GIH 3.6893 +mh01NK-001 GWD 3.2509 +mh01NK-001 IBS 3.1339 +mh01NK-001 ITU 3.7471 +mh01NK-001 JPT 2.9628 +mh01NK-001 KHV 2.8878 +mh01NK-001 LWK 3.4258 +mh01NK-001 MSL 3.1816 +mh01NK-001 MXL 4.1051 +mh01NK-001 PEL 3.1376 +mh01NK-001 PJL 3.0688 +mh01NK-001 PUR 3.8092 +mh01NK-001 STU 4.0240 +mh01NK-001 TSI 3.0904 +mh01NK-001 YRI 3.0384 +mh01USC-1pA ACB 4.6990 +mh01USC-1pA ASW 5.0817 +mh01USC-1pA BEB 3.7383 +mh01USC-1pA CDX 4.1822 +mh01USC-1pA CEU 3.0500 +mh01USC-1pA CHB 4.0742 +mh01USC-1pA CHS 4.3060 +mh01USC-1pA CLM 3.9928 +mh01USC-1pA ESN 4.0050 +mh01USC-1pA FIN 3.5965 +mh01USC-1pA GBR 3.3550 +mh01USC-1pA GIH 3.3496 +mh01USC-1pA GWD 4.1746 +mh01USC-1pA IBS 3.1712 +mh01USC-1pA ITU 3.0709 +mh01USC-1pA JPT 3.4427 +mh01USC-1pA KHV 4.0566 +mh01USC-1pA LWK 4.5074 +mh01USC-1pA MSL 4.3426 +mh01USC-1pA MXL 4.1484 +mh01USC-1pA PEL 2.8199 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+mh13USC-13qB CHS 3.0034 +mh13USC-13qB CLM 4.6872 +mh13USC-13qB ESN 2.7936 +mh13USC-13qB FIN 4.0132 +mh13USC-13qB GBR 4.3704 +mh13USC-13qB GIH 4.0908 +mh13USC-13qB GWD 3.0057 +mh13USC-13qB IBS 4.2485 +mh13USC-13qB ITU 3.6576 +mh13USC-13qB JPT 2.4258 +mh13USC-13qB KHV 3.2671 +mh13USC-13qB LWK 3.6031 +mh13USC-13qB MSL 3.5321 +mh13USC-13qB MXL 4.6080 +mh13USC-13qB PEL 4.3411 +mh13USC-13qB PJL 4.2737 +mh13USC-13qB PUR 4.6487 +mh13USC-13qB STU 3.9944 +mh13USC-13qB TSI 4.1954 +mh13USC-13qB YRI 3.0230 +mh13USC-13qC ACB 3.1282 +mh13USC-13qC ASW 3.6418 +mh13USC-13qC BEB 2.8719 +mh13USC-13qC CDX 2.7655 +mh13USC-13qC CEU 3.4533 +mh13USC-13qC CHB 2.3143 +mh13USC-13qC CHS 2.6484 +mh13USC-13qC CLM 3.5622 +mh13USC-13qC ESN 2.8776 +mh13USC-13qC FIN 3.7394 +mh13USC-13qC GBR 3.5116 +mh13USC-13qC GIH 3.0770 +mh13USC-13qC GWD 3.4459 +mh13USC-13qC IBS 3.2189 +mh13USC-13qC ITU 2.9102 +mh13USC-13qC JPT 2.4868 +mh13USC-13qC KHV 2.5777 +mh13USC-13qC LWK 3.1533 +mh13USC-13qC MSL 3.4854 +mh13USC-13qC MXL 2.8448 +mh13USC-13qC PEL 2.2362 +mh13USC-13qC PJL 3.3865 +mh13USC-13qC PUR 3.5598 +mh13USC-13qC STU 2.8518 +mh13USC-13qC TSI 3.4653 +mh13USC-13qC YRI 3.2087 +mh13USC-13qD ACB 5.3618 +mh13USC-13qD ASW 4.7089 +mh13USC-13qD BEB 4.2154 +mh13USC-13qD CDX 2.5144 +mh13USC-13qD CEU 4.6620 +mh13USC-13qD CHB 3.3348 +mh13USC-13qD CHS 2.8453 +mh13USC-13qD CLM 4.6455 +mh13USC-13qD ESN 4.9089 +mh13USC-13qD FIN 3.8899 +mh13USC-13qD GBR 4.3904 +mh13USC-13qD GIH 3.7761 +mh13USC-13qD GWD 6.3898 +mh13USC-13qD IBS 4.0349 +mh13USC-13qD ITU 3.4254 +mh13USC-13qD JPT 3.1609 +mh13USC-13qD KHV 2.8743 +mh13USC-13qD LWK 5.6440 +mh13USC-13qD MSL 5.2267 +mh13USC-13qD MXL 4.0992 +mh13USC-13qD PEL 4.2547 +mh13USC-13qD PJL 4.0268 +mh13USC-13qD PUR 4.7024 +mh13USC-13qD STU 3.6718 +mh13USC-13qD TSI 4.4909 +mh13USC-13qD YRI 4.9868 +mh14CP-003 ACB 3.5498 +mh14CP-003 ASW 4.1474 +mh14CP-003 BEB 3.6389 +mh14CP-003 CDX 3.1528 +mh14CP-003 CEU 2.6317 +mh14CP-003 CHB 3.5212 +mh14CP-003 CHS 3.2029 +mh14CP-003 CLM 2.7845 +mh14CP-003 ESN 3.4281 +mh14CP-003 FIN 3.0389 +mh14CP-003 GBR 2.9065 +mh14CP-003 GIH 3.6790 +mh14CP-003 GWD 3.2570 +mh14CP-003 IBS 2.5686 +mh14CP-003 ITU 3.5207 +mh14CP-003 JPT 4.1021 +mh14CP-003 KHV 3.3956 +mh14CP-003 LWK 3.5185 +mh14CP-003 MSL 3.4093 +mh14CP-003 MXL 2.9801 +mh14CP-003 PEL 2.2450 +mh14CP-003 PJL 3.5045 +mh14CP-003 PUR 2.9956 +mh14CP-003 STU 3.4694 +mh14CP-003 TSI 2.6732 +mh14CP-003 YRI 3.2735 +mh14CP-004 ACB 3.5921 +mh14CP-004 ASW 3.4382 +mh14CP-004 BEB 2.4086 +mh14CP-004 CDX 3.5722 +mh14CP-004 CEU 2.4048 +mh14CP-004 CHB 3.7528 +mh14CP-004 CHS 3.9769 +mh14CP-004 CLM 2.7326 +mh14CP-004 ESN 3.1673 +mh14CP-004 FIN 2.5339 +mh14CP-004 GBR 2.7205 +mh14CP-004 GIH 2.0608 +mh14CP-004 GWD 3.6861 +mh14CP-004 IBS 2.5241 +mh14CP-004 ITU 1.9648 +mh14CP-004 JPT 3.4405 +mh14CP-004 KHV 3.4818 +mh14CP-004 LWK 3.3471 +mh14CP-004 MSL 3.5557 +mh14CP-004 MXL 2.9016 +mh14CP-004 PEL 2.2044 +mh14CP-004 PJL 2.1714 +mh14CP-004 PUR 2.1647 +mh14CP-004 STU 1.8721 +mh14CP-004 TSI 2.3759 +mh14CP-004 YRI 3.2688 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LWK 2.7523 +mh14KK-068 MSL 2.3186 +mh14KK-068 MXL 2.0995 +mh14KK-068 PEL 1.4251 +mh14KK-068 PJL 2.5849 +mh14KK-068 PUR 2.8216 +mh14KK-068 STU 2.5267 +mh14KK-068 TSI 2.1817 +mh14KK-068 YRI 2.3574 +mh14KK-101 ACB 1.7956 +mh14KK-101 ASW 2.0752 +mh14KK-101 BEB 1.6813 +mh14KK-101 CDX 1.0100 +mh14KK-101 CEU 2.0383 +mh14KK-101 CHB 1.2483 +mh14KK-101 CHS 1.1520 +mh14KK-101 CLM 2.4573 +mh14KK-101 ESN 1.6154 +mh14KK-101 FIN 2.0409 +mh14KK-101 GBR 1.9569 +mh14KK-101 GIH 2.1180 +mh14KK-101 GWD 1.4714 +mh14KK-101 IBS 1.8976 +mh14KK-101 ITU 1.7352 +mh14KK-101 JPT 1.4628 +mh14KK-101 KHV 1.0622 +mh14KK-101 LWK 1.7158 +mh14KK-101 MSL 1.5512 +mh14KK-101 MXL 2.0078 +mh14KK-101 PEL 1.4096 +mh14KK-101 PJL 2.2402 +mh14KK-101 PUR 2.4868 +mh14KK-101 STU 1.7895 +mh14KK-101 TSI 1.9649 +mh14KK-101 YRI 1.6000 +mh14NH-21 ACB 2.9996 +mh14NH-21 ASW 3.0978 +mh14NH-21 BEB 2.7143 +mh14NH-21 CDX 2.4054 +mh14NH-21 CEU 3.0734 +mh14NH-21 CHB 2.5973 +mh14NH-21 CHS 2.2491 +mh14NH-21 CLM 3.0333 +mh14NH-21 ESN 2.9137 +mh14NH-21 FIN 3.2522 +mh14NH-21 GBR 3.3299 +mh14NH-21 GIH 3.1164 +mh14NH-21 GWD 2.7800 +mh14NH-21 IBS 3.1797 +mh14NH-21 ITU 3.0062 +mh14NH-21 JPT 2.4405 +mh14NH-21 KHV 2.4981 +mh14NH-21 LWK 2.9696 +mh14NH-21 MSL 2.9652 +mh14NH-21 MXL 2.7429 +mh14NH-21 PEL 1.7841 +mh14NH-21 PJL 3.2888 +mh14NH-21 PUR 2.9435 +mh14NH-21 STU 3.2873 +mh14NH-21 TSI 3.2103 +mh14NH-21 YRI 3.3925 +mh14NH-22 ACB 1.6451 +mh14NH-22 ASW 1.6182 +mh14NH-22 BEB 1.9734 +mh14NH-22 CDX 1.8841 +mh14NH-22 CEU 1.1982 +mh14NH-22 CHB 1.9424 +mh14NH-22 CHS 1.7993 +mh14NH-22 CLM 1.4512 +mh14NH-22 ESN 1.5302 +mh14NH-22 FIN 1.3727 +mh14NH-22 GBR 1.2556 +mh14NH-22 GIH 1.9971 +mh14NH-22 GWD 1.4626 +mh14NH-22 IBS 1.2267 +mh14NH-22 ITU 1.9998 +mh14NH-22 JPT 1.8824 +mh14NH-22 KHV 1.9605 +mh14NH-22 LWK 1.7126 +mh14NH-22 MSL 1.5963 +mh14NH-22 MXL 1.4188 +mh14NH-22 PEL 1.3499 +mh14NH-22 PJL 1.8328 +mh14NH-22 PUR 1.4172 +mh14NH-22 STU 1.9982 +mh14NH-22 TSI 1.1497 +mh14NH-22 YRI 1.4927 +mh14PK-72639 ACB 3.4195 +mh14PK-72639 ASW 3.8332 +mh14PK-72639 BEB 3.2716 +mh14PK-72639 CDX 2.9107 +mh14PK-72639 CEU 3.9213 +mh14PK-72639 CHB 2.6995 +mh14PK-72639 CHS 2.7021 +mh14PK-72639 CLM 3.6055 +mh14PK-72639 ESN 3.8208 +mh14PK-72639 FIN 3.6535 +mh14PK-72639 GBR 3.9127 +mh14PK-72639 GIH 3.3561 +mh14PK-72639 GWD 3.6476 +mh14PK-72639 IBS 3.9529 +mh14PK-72639 ITU 3.0228 +mh14PK-72639 JPT 2.3622 +mh14PK-72639 KHV 3.0551 +mh14PK-72639 LWK 3.3519 +mh14PK-72639 MSL 4.3805 +mh14PK-72639 MXL 2.7867 +mh14PK-72639 PEL 1.4658 +mh14PK-72639 PJL 3.5741 +mh14PK-72639 PUR 4.2932 +mh14PK-72639 STU 3.3395 +mh14PK-72639 TSI 3.8200 +mh14PK-72639 YRI 3.8185 +mh14USC-14qA ACB 3.0799 +mh14USC-14qA ASW 2.9203 +mh14USC-14qA BEB 3.6438 +mh14USC-14qA CDX 3.4698 +mh14USC-14qA CEU 3.8080 +mh14USC-14qA CHB 3.3730 +mh14USC-14qA CHS 3.4433 +mh14USC-14qA CLM 4.0414 +mh14USC-14qA ESN 2.2558 +mh14USC-14qA FIN 3.9795 +mh14USC-14qA GBR 3.9867 +mh14USC-14qA GIH 3.8011 +mh14USC-14qA GWD 2.5519 +mh14USC-14qA IBS 3.9131 +mh14USC-14qA ITU 3.6789 +mh14USC-14qA JPT 3.4813 +mh14USC-14qA KHV 3.2180 +mh14USC-14qA LWK 2.7177 +mh14USC-14qA MSL 2.4345 +mh14USC-14qA MXL 3.4506 +mh14USC-14qA PEL 3.0806 +mh14USC-14qA PJL 3.8743 +mh14USC-14qA PUR 3.7629 +mh14USC-14qA STU 3.3264 +mh14USC-14qA TSI 3.8909 +mh14USC-14qA YRI 2.4780 +mh14USC-14qB ACB 2.7365 +mh14USC-14qB ASW 3.0475 +mh14USC-14qB BEB 3.2516 +mh14USC-14qB CDX 3.4635 +mh14USC-14qB CEU 2.4829 +mh14USC-14qB CHB 3.4038 +mh14USC-14qB CHS 3.3175 +mh14USC-14qB CLM 3.3130 +mh14USC-14qB ESN 2.7006 +mh14USC-14qB FIN 2.8155 +mh14USC-14qB GBR 2.2999 +mh14USC-14qB GIH 3.1937 +mh14USC-14qB GWD 2.5823 +mh14USC-14qB IBS 2.0855 +mh14USC-14qB ITU 3.5062 +mh14USC-14qB JPT 3.8793 +mh14USC-14qB KHV 3.3458 +mh14USC-14qB LWK 2.7185 +mh14USC-14qB MSL 2.6661 +mh14USC-14qB MXL 3.2825 +mh14USC-14qB PEL 2.8703 +mh14USC-14qB PJL 2.9429 +mh14USC-14qB PUR 2.6789 +mh14USC-14qB STU 3.2800 +mh14USC-14qB TSI 2.2867 +mh14USC-14qB YRI 2.7064 +mh14USC-14qC ACB 3.0752 +mh14USC-14qC ASW 3.4778 +mh14USC-14qC BEB 2.6161 +mh14USC-14qC CDX 3.1090 +mh14USC-14qC CEU 2.6723 +mh14USC-14qC CHB 2.9658 +mh14USC-14qC CHS 3.1541 +mh14USC-14qC CLM 3.3310 +mh14USC-14qC ESN 2.7015 +mh14USC-14qC FIN 2.7880 +mh14USC-14qC GBR 3.0609 +mh14USC-14qC GIH 2.2668 +mh14USC-14qC GWD 2.7658 +mh14USC-14qC IBS 3.0157 +mh14USC-14qC ITU 2.1459 +mh14USC-14qC JPT 3.2687 +mh14USC-14qC KHV 2.7832 +mh14USC-14qC LWK 2.5246 +mh14USC-14qC MSL 2.7223 +mh14USC-14qC MXL 3.6246 +mh14USC-14qC PEL 2.8829 +mh14USC-14qC PJL 2.4468 +mh14USC-14qC PUR 3.0567 +mh14USC-14qC STU 2.3983 +mh14USC-14qC TSI 2.6947 +mh14USC-14qC YRI 2.7608 +mh14USC-14qD ACB 3.5956 +mh14USC-14qD ASW 3.6061 +mh14USC-14qD BEB 3.0522 +mh14USC-14qD CDX 1.2738 +mh14USC-14qD CEU 2.8297 +mh14USC-14qD CHB 1.3092 +mh14USC-14qD CHS 1.3228 +mh14USC-14qD CLM 2.9849 +mh14USC-14qD ESN 3.7246 +mh14USC-14qD FIN 3.0216 +mh14USC-14qD GBR 2.9359 +mh14USC-14qD GIH 2.9442 +mh14USC-14qD GWD 3.7689 +mh14USC-14qD IBS 2.7281 +mh14USC-14qD ITU 2.8514 +mh14USC-14qD JPT 1.4441 +mh14USC-14qD KHV 1.3224 +mh14USC-14qD LWK 3.6668 +mh14USC-14qD MSL 3.6072 +mh14USC-14qD MXL 2.7427 +mh14USC-14qD PEL 2.4397 +mh14USC-14qD PJL 2.9703 +mh14USC-14qD PUR 3.1905 +mh14USC-14qD STU 3.0178 +mh14USC-14qD TSI 2.9874 +mh14USC-14qD YRI 3.6165 +mh15AT-31 ACB 4.5298 +mh15AT-31 ASW 4.0026 +mh15AT-31 BEB 3.6499 +mh15AT-31 CDX 2.2959 +mh15AT-31 CEU 3.3313 +mh15AT-31 CHB 2.6956 +mh15AT-31 CHS 2.4829 +mh15AT-31 CLM 2.9235 +mh15AT-31 ESN 4.3469 +mh15AT-31 FIN 2.8094 +mh15AT-31 GBR 3.0756 +mh15AT-31 GIH 2.8481 +mh15AT-31 GWD 4.1128 +mh15AT-31 IBS 2.8429 +mh15AT-31 ITU 3.6140 +mh15AT-31 JPT 2.7825 +mh15AT-31 KHV 2.2934 +mh15AT-31 LWK 4.5107 +mh15AT-31 MSL 3.7242 +mh15AT-31 MXL 3.0784 +mh15AT-31 PEL 2.3996 +mh15AT-31 PJL 4.0695 +mh15AT-31 PUR 3.3922 +mh15AT-31 STU 3.9527 +mh15AT-31 TSI 3.2824 +mh15AT-31 YRI 4.6822 +mh15AT-32 ACB 3.3308 +mh15AT-32 ASW 3.3755 +mh15AT-32 BEB 3.8635 +mh15AT-32 CDX 3.1634 +mh15AT-32 CEU 1.7839 +mh15AT-32 CHB 2.9744 +mh15AT-32 CHS 3.4250 +mh15AT-32 CLM 2.8151 +mh15AT-32 ESN 3.2158 +mh15AT-32 FIN 2.3550 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+mh22KK-061 BEB 3.6492 +mh22KK-061 CDX 3.3620 +mh22KK-061 CEU 3.7331 +mh22KK-061 CHB 2.9482 +mh22KK-061 CHS 3.2027 +mh22KK-061 CLM 3.4506 +mh22KK-061 ESN 3.7835 +mh22KK-061 FIN 3.4746 +mh22KK-061 GBR 3.8753 +mh22KK-061 GIH 3.7392 +mh22KK-061 GWD 4.3183 +mh22KK-061 IBS 3.9964 +mh22KK-061 ITU 3.8898 +mh22KK-061 JPT 2.7627 +mh22KK-061 KHV 3.2194 +mh22KK-061 LWK 3.6981 +mh22KK-061 MSL 3.8902 +mh22KK-061 MXL 2.1875 +mh22KK-061 PEL 1.4738 +mh22KK-061 PJL 3.5024 +mh22KK-061 PUR 4.0047 +mh22KK-061 STU 4.1065 +mh22KK-061 TSI 4.3915 +mh22KK-061 YRI 3.9272 +mh22KK-064 ACB 2.5000 +mh22KK-064 ASW 2.3128 +mh22KK-064 BEB 1.3600 +mh22KK-064 CDX 1.3855 +mh22KK-064 CEU 1.5018 +mh22KK-064 CHB 1.4060 +mh22KK-064 CHS 1.5329 +mh22KK-064 CLM 1.3019 +mh22KK-064 ESN 2.5089 +mh22KK-064 FIN 1.3727 +mh22KK-064 GBR 1.5923 +mh22KK-064 GIH 1.3549 +mh22KK-064 GWD 2.6943 +mh22KK-064 IBS 1.4498 +mh22KK-064 ITU 1.3727 +mh22KK-064 JPT 1.4758 +mh22KK-064 KHV 1.5923 +mh22KK-064 LWK 1.7604 +mh22KK-064 MSL 2.1308 +mh22KK-064 MXL 1.2604 +mh22KK-064 PEL 1.0853 +mh22KK-064 PJL 1.4524 +mh22KK-064 PUR 1.5561 +mh22KK-064 STU 1.3727 +mh22KK-064 TSI 1.6756 +mh22KK-064 YRI 2.4267 +mh22KK-069 ACB 2.8171 +mh22KK-069 ASW 2.7804 +mh22KK-069 BEB 2.4332 +mh22KK-069 CDX 2.1365 +mh22KK-069 CEU 1.7074 +mh22KK-069 CHB 2.2849 +mh22KK-069 CHS 2.4167 +mh22KK-069 CLM 2.1471 +mh22KK-069 ESN 2.5716 +mh22KK-069 FIN 1.5407 +mh22KK-069 GBR 1.7378 +mh22KK-069 GIH 1.9201 +mh22KK-069 GWD 2.3174 +mh22KK-069 IBS 1.6165 +mh22KK-069 ITU 1.8851 +mh22KK-069 JPT 1.9728 +mh22KK-069 KHV 2.2550 +mh22KK-069 LWK 2.7326 +mh22KK-069 MSL 2.2505 +mh22KK-069 MXL 1.8752 +mh22KK-069 PEL 1.5269 +mh22KK-069 PJL 1.9016 +mh22KK-069 PUR 2.0884 +mh22KK-069 STU 1.9639 +mh22KK-069 TSI 1.6306 +mh22KK-069 YRI 2.5156 +mh22KK-303 ACB 2.7720 +mh22KK-303 ASW 2.4131 +mh22KK-303 BEB 2.0002 +mh22KK-303 CDX 1.7674 +mh22KK-303 CEU 1.9902 +mh22KK-303 CHB 1.9283 +mh22KK-303 CHS 1.7854 +mh22KK-303 CLM 2.0355 +mh22KK-303 ESN 2.7160 +mh22KK-303 FIN 2.0850 +mh22KK-303 GBR 1.9942 +mh22KK-303 GIH 2.0698 +mh22KK-303 GWD 2.4653 +mh22KK-303 IBS 2.0061 +mh22KK-303 ITU 2.0676 +mh22KK-303 JPT 1.9189 +mh22KK-303 KHV 1.6154 +mh22KK-303 LWK 2.8568 +mh22KK-303 MSL 2.4128 +mh22KK-303 MXL 2.0669 +mh22KK-303 PEL 2.3336 +mh22KK-303 PJL 2.0516 +mh22KK-303 PUR 2.1037 +mh22KK-303 STU 1.8697 +mh22KK-303 TSI 2.0848 +mh22KK-303 YRI 2.5274 +mh22NH-27 ACB 3.4936 +mh22NH-27 ASW 3.7394 +mh22NH-27 BEB 2.9810 +mh22NH-27 CDX 2.5478 +mh22NH-27 CEU 3.3083 +mh22NH-27 CHB 2.0611 +mh22NH-27 CHS 2.1633 +mh22NH-27 CLM 3.2042 +mh22NH-27 ESN 3.1476 +mh22NH-27 FIN 2.8101 +mh22NH-27 GBR 3.0274 +mh22NH-27 GIH 3.1655 +mh22NH-27 GWD 3.4928 +mh22NH-27 IBS 2.9767 +mh22NH-27 ITU 2.4924 +mh22NH-27 JPT 2.2968 +mh22NH-27 KHV 2.3361 +mh22NH-27 LWK 3.2292 +mh22NH-27 MSL 3.1010 +mh22NH-27 MXL 2.7620 +mh22NH-27 PEL 2.3908 +mh22NH-27 PJL 2.7588 +mh22NH-27 PUR 3.1596 +mh22NH-27 STU 2.7621 +mh22NH-27 TSI 3.1877 +mh22NH-27 YRI 3.1512 +mh22USC-22qA ACB 3.6376 +mh22USC-22qA ASW 4.3195 +mh22USC-22qA BEB 3.3132 +mh22USC-22qA CDX 3.1260 +mh22USC-22qA CEU 3.7603 +mh22USC-22qA CHB 3.0424 +mh22USC-22qA CHS 3.3699 +mh22USC-22qA CLM 3.9262 +mh22USC-22qA ESN 3.8439 +mh22USC-22qA FIN 4.1676 +mh22USC-22qA GBR 3.9545 +mh22USC-22qA GIH 3.3640 +mh22USC-22qA GWD 3.3573 +mh22USC-22qA IBS 3.7916 +mh22USC-22qA ITU 3.0613 +mh22USC-22qA JPT 3.0077 +mh22USC-22qA KHV 3.3836 +mh22USC-22qA LWK 3.8979 +mh22USC-22qA MSL 3.6696 +mh22USC-22qA MXL 3.3721 +mh22USC-22qA PEL 3.0303 +mh22USC-22qA PJL 3.1507 +mh22USC-22qA PUR 4.1219 +mh22USC-22qA STU 3.1731 +mh22USC-22qA TSI 3.9814 +mh22USC-22qA YRI 3.5894 +mh22USC-22qB ACB 5.6245 +mh22USC-22qB ASW 5.6001 +mh22USC-22qB BEB 4.6466 +mh22USC-22qB CDX 2.7426 +mh22USC-22qB CEU 3.7691 +mh22USC-22qB CHB 3.8605 +mh22USC-22qB CHS 3.5810 +mh22USC-22qB CLM 4.8618 +mh22USC-22qB ESN 4.5828 +mh22USC-22qB FIN 4.1236 +mh22USC-22qB GBR 3.7872 +mh22USC-22qB GIH 4.4343 +mh22USC-22qB GWD 4.5932 +mh22USC-22qB IBS 4.5042 +mh22USC-22qB ITU 4.4922 +mh22USC-22qB JPT 4.4492 +mh22USC-22qB KHV 2.7164 +mh22USC-22qB LWK 4.7907 +mh22USC-22qB MSL 4.8308 +mh22USC-22qB MXL 4.5919 +mh22USC-22qB PEL 3.2748 +mh22USC-22qB PJL 3.8732 +mh22USC-22qB PUR 4.3087 +mh22USC-22qB STU 4.7409 +mh22USC-22qB TSI 4.4791 +mh22USC-22qB YRI 5.7348 diff --git a/dbbuild/sources/1kgp/mhfreqs.py b/dbbuild/sources/1kgp/mhfreqs.py index 22e08a84..0d99a0c6 100755 --- a/dbbuild/sources/1kgp/mhfreqs.py +++ b/dbbuild/sources/1kgp/mhfreqs.py @@ -3,6 +3,7 @@ from argparse import ArgumentParser from collections import defaultdict from glob import glob +import json import os import pandas import rsidx @@ -12,6 +13,9 @@ def cli(): '''Command line interface''' parser = ArgumentParser() + parser.add_argument( + '--configfile', default='../../config.json', help='path to file containing database config' + ) parser.add_argument( 'samplepops', help='two-column table with 1KGP sample in the first column and the ' 'corresponding 1KGP 3-character population code in the second column' @@ -92,18 +96,20 @@ def mhfreqs(rsids, vcffile, rsidxfile, samplepops): yield population, allele, freq -def get_indexes_for_marker(marker): +def get_indexes_for_marker(marker, path): chrom = marker[2:4] if chrom[0] == '0': chrom = chrom[1] - prefix = 'ALL.chr' + chrom + '.phase3_shapeit2_mvncall_integrated_v??.20130502.genotypes' - vcf = glob(prefix + '.vcf.gz')[0] - rsidx = glob(prefix + '.rsidx')[0] + prefix = os.path.join(path, f'chr{chrom}') + vcf = glob(f'{prefix}.vcf.gz')[0] + rsidx = glob(f'{prefix}.rsidx')[0] return vcf, rsidx def main(args): '''Driver function''' + with open(args.configfile, 'r') as fh: + config = json.load(fh) samplepops = load_population_data(args.samplepops) marker_rsids = dict() @@ -115,7 +121,7 @@ def main(args): print('Marker', 'Population', 'Allele', 'Frequency', sep='\t') for marker, rsids in marker_rsids.items(): - vcf, rsidx = get_indexes_for_marker(marker) + vcf, rsidx = get_indexes_for_marker(marker, path=config['1kgp_dir']) if not os.path.exists(vcf) or not os.path.exists(rsidx): raise RuntimeError('VCF and/or RSIDX files do not exist') for values in mhfreqs(rsids, vcf, rsidx, samplepops): diff --git a/dbbuild/sources/1kgp/prepinfocalc.py b/dbbuild/sources/1kgp/prepinfocalc.py index 229c0c27..45e51d1f 100755 --- a/dbbuild/sources/1kgp/prepinfocalc.py +++ b/dbbuild/sources/1kgp/prepinfocalc.py @@ -1,10 +1,13 @@ #!/usr/bin/env python from argparse import ArgumentParser from collections import defaultdict +import json from mhfreqs import cli, construct_haplotypes, get_indexes_for_marker, load_population_data def main(args): + with open(args.configfile, 'r') as fh: + config = json.load(fh) samplepops = load_population_data(args.samplepops) marker_rsids = dict() with open(args.markerrsids, 'r') as fh: @@ -22,7 +25,7 @@ def main(args): marker_haplotype_codes = defaultdict(dict) code = 0 for marker in markers: - vcf, rsidx = get_indexes_for_marker(marker) + vcf, rsidx = get_indexes_for_marker(marker, path=config['1kgp_dir']) rsids = marker_rsids[marker] samples, haplo1, haplo2 = construct_haplotypes(rsids, vcf, rsidx) def _get_hap_code(haplotype): diff --git a/dbbuild/sources/alfred2018/README.md b/dbbuild/sources/alfred2018/README.md index 1abe817d..0f851b53 100644 --- a/dbbuild/sources/alfred2018/README.md +++ b/dbbuild/sources/alfred2018/README.md @@ -10,23 +10,6 @@ Kidd KK, Rajeevan H (2018) ALFRED data download. *The Allele Frequency Database* ## Build Process -The following software is required to compile the published data into the table format required by MicroHapDB. - -- Python 3 -- [Snakemake][] -- [rsidx][] - -A recent version of the dbSNP database is also required, both the VCF file and the corresponding tabix index. - -### Step 0: index dbSNP for rsid searches - -Run the following command to index the dbSNP VCF file for rsid searches. -This usually requires more than an hour. - -``` -rsidx index /path/to/dbSNP.vcf.gz /path/to/dbSNP.rsidx -``` - ### Step 1: download ALFRED marker and frequency data (OPTIONAL) Microhap allele frequencies are available from ALFRED in a single text file. @@ -35,8 +18,7 @@ These HTML files have been downloaded to `dbbuild/sources/alfred2018/marker-deta **Downloading them again shouldn't be necessary**, but for the sake of the curious the download process can be repeated by running the following command from the `dbbuild/sources/alfred2018/` directory. ``` -snakemake -s download.Snakefile frequencies -snakemake -s download.Snakefile markers +snakemake -s download.Snakefile frequencies markers ``` ### Step 2: compile data tables @@ -44,10 +26,12 @@ snakemake -s download.Snakefile markers Run the following command from the `dbbuild/sources/alfred2018/` directory to compile the data into the table format required by MicroHapDB. ``` -snakemake --config dbsnp=/path/to/dbSNP.vcf.gz rsidx=/path/to/dbSNP.rsidx -p all +snakemake --configfile ../../config.json --cores 1 -p all ``` +## Appendix + ### Known Issues The ALFRED database publishes 1GKP-derived frequencies for some markers. @@ -55,6 +39,3 @@ For many markers there is perfect agreement between ALFRED and MicroHapDB, but i After correspondence with the ALFRED curators, we suspect that these differences are due to their use of PHASE over all aggregated data sets to statistically infer haplotypes, while MicroHapDB relies entirely on haplotypes as published in the 1KGP data. 1KGP-derived frequencies published by ALFRED are stored here in `frequency-1kgp.tsv` but are not integrated into the final MicroHapDB database. - -[Snakemake]: https://snakemake.readthedocs.io/en/stable/ -[rsidx]: https://github.com/bioforensics/rsidx diff --git a/dbbuild/sources/alfred2018/Snakefile b/dbbuild/sources/alfred2018/Snakefile index e6568c40..293d07ed 100644 --- a/dbbuild/sources/alfred2018/Snakefile +++ b/dbbuild/sources/alfred2018/Snakefile @@ -39,8 +39,8 @@ rule marker_rsids: rule dbsnp_subset: input: rsidlist='all-rsids.txt', - dbsnp=config['dbsnp'], - rsidx=config['rsidx'], + dbsnp=config['dbsnp38'], + rsidx=config['dbsnp38'].replace('.vcf.gz', '.rsidx'), output: 'dbsnp-subset.vcf.gz' run: rsids = list() diff --git a/dbbuild/sources/alfred2018/databases b/dbbuild/sources/alfred2018/databases new file mode 120000 index 00000000..5f01a0a8 --- /dev/null +++ b/dbbuild/sources/alfred2018/databases @@ -0,0 +1 @@ +../../databases \ No newline at end of file diff --git a/dbbuild/sources/chen2019/README.md b/dbbuild/sources/chen2019/README.md index b66a1b8d..e15585c4 100644 --- a/dbbuild/sources/chen2019/README.md +++ b/dbbuild/sources/chen2019/README.md @@ -6,15 +6,12 @@ Chen P, Deng C, Li Z, Pu Y, Yang J, Yu Y, Li K, Li D, Liang W, Zhang L, Chen F ( ## Build Process -The following software is required to compile the published data into the table format required by MicroHapDB. +To compile the data into the table format required by MicroHapDB, run the `snakemake --cores 1` command from the `dbbuild/sources/chen2019/` directory. -- Python 3 -- [Snakemake][] -To compile the data into the table format required by MicroHapDB, run the `snakemake` command from the `dbbuild/sources/chen2019/` directory. +## Appendix - -## Manual Pre-processing +### Manual Pre-processing The file `prelim-marker-variants.xslx` is a manually reformatted version of Table 1 from the manuscript. The file `prelim-allele-freq.xlsx` is a manually reformatted version of the allele frequency table included in the supplementary data (`mmc6.xlsx`). @@ -24,8 +21,7 @@ These files were manually exported to TSV format to facilitate subsequent proces The population ID was created by appending the output of `echo $'10.1016/j.fsigen.2019.02.018\tHan' | md5 | cut -c 1-10` to the prefix `MHDBP-`. - -## Problematic allele +### Problematic allele The allele frequency table included in the supplement includes an allele designated simply as "6" for the marker MH06CP003. This marker is not one of the 11 markers described in the paper, and had been recorded previously in the ALFRED database—see https://alfred.med.yale.edu/alfred/recordinfo.asp?UNID=SI664884K. diff --git a/dbbuild/sources/hiroaki2015/README.md b/dbbuild/sources/hiroaki2015/README.md index e5fa150b..b0b5a4d5 100644 --- a/dbbuild/sources/hiroaki2015/README.md +++ b/dbbuild/sources/hiroaki2015/README.md @@ -6,25 +6,16 @@ Hiroaki N, Fujii K, Kitayama T, Sekiguchi K, Nakanishi H, Saito K (2015) Approac ## Build Process -The following software is required to compile the published data into the table format required by MicroHapDB. +Run the following command from the `dbbuild/sources/hiroaki2015/` directory to compile the data into the table format required by MicroHapDB. -- Python 3 -- [Snakemake][] -- [rsidx][] - -A recent version of the dbSNP database is also required, both the VCF file and the corresponding tabix index. - -Run the following commands from the `dbbuild/sources/hiroaki2015/` directory to compile the data into the table format required by MicroHapDB. +``` +snakemake --configfile ../../config.json --cores 1 -p all +``` -```bash -# Build rsidx index if it doesn't yet exist; requires > 1 hour -rsidx index /path/to/dbSNP.vcf.gz /path/to/dbSNP.rsidx -# Compile the data tables -snakemake --config dbsnp=/path/to/dbSNP.vcf.gz rsidx=/path/to/dbSNP.rsidx -p all -``` +## Appendix -## Manual Pre-processing +### Manual Pre-processing The file `table1-subset.tsv` was created manually from Table 1 of the manuscript. The file `frequency.tsv` was created manually from Table 2 of the manuscript. @@ -32,8 +23,7 @@ In both cases, marker numbers were converted into marker names using the `mh 1 hour -rsidx index /path/to/dbSNP.vcf.gz /path/to/dbSNP.rsidx -# Compile the data tables -snakemake --config dbsnp=/path/to/dbSNP.vcf.gz rsidx=/path/to/dbSNP.rsidx -p all -``` +## Appendix -## Manual Pre-processing +### Manual Pre-processing The files `marker-variants.tsv` and `allele-frequencies.tsv` were exported to TSV from the corresponding `Position` and `Frequencies` tabs of the original data file furnished by the authors (in `original/Microhaplotype positions and frequencies.xlsx`). diff --git a/dbbuild/sources/staadig2019/Snakefile b/dbbuild/sources/staadig2019/Snakefile index 59b57130..0db21cd0 100644 --- a/dbbuild/sources/staadig2019/Snakefile +++ b/dbbuild/sources/staadig2019/Snakefile @@ -15,8 +15,8 @@ rule all: rule dbsnp_subset: input: markers='marker-variants.tsv', - dbsnp=config['dbsnp'], - rsidx=config['rsidx'], + dbsnp=config['dbsnp38'], + rsidx=config['dbsnp38'].replace('.vcf.gz', '.rsidx'), output: 'dbsnp-subset.vcf.gz' run: rsids = list() diff --git a/dbbuild/sources/staadig2019/databases b/dbbuild/sources/staadig2019/databases new file mode 120000 index 00000000..5f01a0a8 --- /dev/null +++ b/dbbuild/sources/staadig2019/databases @@ -0,0 +1 @@ +../../databases \ No newline at end of file diff --git a/dbbuild/sources/vandergaag2018/README.md b/dbbuild/sources/vandergaag2018/README.md index bb66f05e..65e43141 100644 --- a/dbbuild/sources/vandergaag2018/README.md +++ b/dbbuild/sources/vandergaag2018/README.md @@ -6,18 +6,16 @@ van der Gaag KJ, de Leeuw RH, Laros JFJ, den Dunnen JT, de Knijff P (2018) Short ## Build Process -The following software is required to compile the published data into the table format required by MicroHapDB. +Run the following command from the `dbbuild/sources/vandergaag2018/` directory to compile the data into the table format required by MicroHapDB. -- Python 3 -- [Snakemake][] +```bash +snakemake --cores 1 -p all +``` -To build the TSV files required by MicroHapDB, run the following command from the `dbbuild/sources/vandergaag2018/` directory. -``` -snakemake -p all -``` +## Appendix -## Manual Pre-processing +### Manual Pre-processing The file `figure-S1.txt` was manually created using the supplementary PDF file from the paper (`original/mmc1.pdf`). Genomic coordinates of each marker were determined by copying the sequence from the PDF, editing in some cases, and pasting into a UCSC BLAT search. @@ -40,7 +38,3 @@ $ echo $'10.1016/j.fsigen.2018.05.008\tAsia' | md5 | cut -c 1-10 $ echo $'10.1016/j.fsigen.2018.05.008\tNL' | md5 | cut -c 1-10 383d86606a ``` - - -[Snakemake]: https://snakemake.readthedocs.io/en/stable/ -[htslib]: https://github.com/samtools/htslib diff --git a/dbbuild/sources/vandergaag2018/Snakefile b/dbbuild/sources/vandergaag2018/Snakefile index 3ea72e21..fd38f86d 100644 --- a/dbbuild/sources/vandergaag2018/Snakefile +++ b/dbbuild/sources/vandergaag2018/Snakefile @@ -10,12 +10,12 @@ from utils import smartopen, parse_markers, marker_variants, parse_frequencies rule all: - input: 'marker.tsv', 'population.tsv', 'frequency.tsv' + input: 'marker.tsv', 'frequency.tsv' rule markers: input: - markers='figure-s1.txt', + markers='figure-S1.txt', rsids='marker-rsids.tsv' output: 'marker.tsv' run: @@ -30,7 +30,7 @@ rule markers: rule frequencies: input: - markers='figure-s1.txt', + markers='figure-S1.txt', freqs='table-S2.txt' output: 'frequency.tsv' run: diff --git a/dbbuild/sources/voskoboinik2018/README.md b/dbbuild/sources/voskoboinik2018/README.md index b2afe2a9..4147eaa7 100644 --- a/dbbuild/sources/voskoboinik2018/README.md +++ b/dbbuild/sources/voskoboinik2018/README.md @@ -6,40 +6,22 @@ Voskoboinik L, Motro U, Darvasi A (2018) Facilitating complex DNA mixture interp ## Build Process -The following software is required to compile the published data into the table format required by MicroHapDB. - -- Python 3 -- wget -- tabix (part of the [samtools/HTSlib project](https://github.com/samtools/htslib)) -- [rsidx][] - -A recent version of the dbSNP database for GRCh38 is also required, both the VCF file and the corresponding tabix index. - -Run the following commands from the `dbbuild/sources/voskoboinik/` directory to compile the data into the table format required by MicroHapDB. +Run the following command from the `dbbuild/sources/voskoboinik/` directory to compile the data into the table format required by MicroHapDB. ```bash -# Download 1000 Genomes Project Phase 3 data -./download.sh - -# Build rsidx index if it doesn't yet exist; requires > 1 hour -rsidx index /path/to/dbSNP.vcf.gz /path/to/dbSNP.rsidx - -# Compile the data tables -./compile_marker_definitions.py table1-subset.tsv /path/to/dbSNP.vcf.gz /path/to/dbSNP.rsidx +snakemake --configfile ../../config.json --cores 1 -p all ``` -## Manual Pre-processing +## Appendix -The file `table1-subset.tsv` was created manually from Table 1 of the manuscript. +### Manual Pre-processing +The file `table1-subset.tsv` was created manually from Table 1 of the manuscript. -## Known Issues +### Known Issues Only a summary of the marker definitions is reported in the paper. Details about each marker are not provided, and despite extensive communication with the corresponding author I was unable to resolve discrepancies between the published summary and my replication of the marker selection. Also, the rsID `rs113012024` was merged into `rs10987426` on July 1, 2015. The latter rsID is stored in MicroHapDB, but the former may be needed when, e.g., querying 1000 Genomes Project data. - - -[rsidx]: https://github.com/bioforensics/rsidx diff --git a/dbbuild/sources/voskoboinik2018/Snakefile b/dbbuild/sources/voskoboinik2018/Snakefile new file mode 100644 index 00000000..ad474b17 --- /dev/null +++ b/dbbuild/sources/voskoboinik2018/Snakefile @@ -0,0 +1,5 @@ +rule all: + input: 'table1-subset.tsv' + output: 'marker.tsv' + shell: './compile_marker_definitions.py {input}' + diff --git a/dbbuild/sources/voskoboinik2018/compile_marker_definitions.py b/dbbuild/sources/voskoboinik2018/compile_marker_definitions.py index b870b99f..534a38ff 100755 --- a/dbbuild/sources/voskoboinik2018/compile_marker_definitions.py +++ b/dbbuild/sources/voskoboinik2018/compile_marker_definitions.py @@ -1,5 +1,7 @@ #!/usr/bin/env python import argparse +import json +import os import pandas import re import subprocess @@ -68,9 +70,9 @@ def get_marker_names(table1file): yield 'mh{chr:02d}LV-{sn:02d}'.format(chr=row.Chrom, sn=n+1) -def get_variants(markername, region): +def get_variants(markername, region, path): chrom = int(markername[2:4]) - infile = 'ALL.chr{chrom:d}.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz'.format(chrom=chrom) + infile = os.path.join(path, f'chr{chrom:d}.vcf.gz') outfile = '{mn:s}-unfiltered.vcf'.format(mn=markername) command = ['tabix', infile, region] with open(outfile, 'w') as fh: @@ -153,19 +155,22 @@ def finalize_marker_definitions(markernames): def cli(): parser = argparse.ArgumentParser() + parser.add_argument('--configfile', default='../../config.json') parser.add_argument('data', help='Table 1 from Voskoboinik et al 2018') - parser.add_argument('vcf', help='dbSNP VCF for GRCh38') - parser.add_argument('rsidx', help='rsidx index for GRCh38') return parser def main(args): + with open(args.configfile, 'r') as fh: + config = json.load(fh) + vcf = config['dbsnp38'] + rsidx = config['dbsnp38'].replace('.vcf.gz', '.rsidx') markernames = list(get_marker_names(args.data)) regions = list(get_regions(args.data)) for name, region in zip(markernames, regions): - get_variants(name, region) + get_variants(name, region, config['1kgp_dir']) filter_variants(name) - transfer_variants(name, args.vcf, args.rsidx) + transfer_variants(name, vcf, rsidx) finalize_marker_definitions(markernames) diff --git a/dbbuild/sources/voskoboinik2018/databases b/dbbuild/sources/voskoboinik2018/databases new file mode 120000 index 00000000..5f01a0a8 --- /dev/null +++ b/dbbuild/sources/voskoboinik2018/databases @@ -0,0 +1 @@ +../../databases \ No newline at end of file diff --git a/dbbuild/sources/voskoboinik2018/download.sh b/dbbuild/sources/voskoboinik2018/download.sh deleted file mode 100755 index 86b0abd2..00000000 --- a/dbbuild/sources/voskoboinik2018/download.sh +++ /dev/null @@ -1,10 +0,0 @@ -#!/usr/bin/env bash -set -e - -root="ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/" - -for i in {1..22}; do - filename="${root}/ALL.chr${i}.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz" - wget ${filename}.tbi - wget ${filename} -done diff --git a/dbbuild/variantmap.tsv b/dbbuild/variantmap.tsv index 936677e5..98fcc2d2 100644 --- a/dbbuild/variantmap.tsv +++ b/dbbuild/variantmap.tsv @@ -1,1573 +1,1573 @@ Variant Marker -rs28503881 mh01USC-1pA -rs4648788 mh01USC-1pA -rs72634811 mh01USC-1pA -rs28689700 mh01USC-1pA -rs3766785 mh01USC-1pB -rs1679910 mh01USC-1pB -rs1679911 mh01USC-1pB -rs4472717 mh01USC-1pC -rs1776320 mh01USC-1pC -rs2211434 mh01USC-1pC -rs6702428 mh01USC-1pD -rs12031966 mh01USC-1pD -rs6687440 mh01USC-1pD -rs870880 mh01USC-1qA -rs870879 mh01USC-1qA -rs4512600 mh01USC-1qB -rs10753020 mh01USC-1qB -rs4344286 mh01USC-1qB -rs34715816 mh01USC-1qB -rs6702229 mh01USC-1qC -rs117262471 mh01USC-1qC -rs6665072 mh01USC-1qC -rs12141154 mh01USC-1qD -rs74148721 mh01USC-1qD -rs56274766 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