diff --git a/CHANGELOG.md b/CHANGELOG.md index 0aa690f..546691e 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -10,6 +10,9 @@ This project adheres to [Semantic Versioning](http://semver.org/). ### Changed - Merged RSIDs resolved during database build now propagated to the final marker definition (see #149). +### Fixed +- Added manual and automated fixes to ensure frequencies are formatted correcly and matche to the correct marker definition (see #150). + ## [0.10.1] 2023-10-13 diff --git a/dbbuild/build-summary.txt b/dbbuild/build-summary.txt index ff6ad5a..6214cee 100644 --- a/dbbuild/build-summary.txt +++ b/dbbuild/build-summary.txt @@ -3034,7 +3034,7 @@ Marker mh11KK-040 as defined in Staadig2021 was defined previously and is redund - 59 marker definitions based on 658 SNPs [Byrska-Bishop2022] - 31 population samples - - frequencies for 59232 distinct haplotypes in 31 populations; 856064 total frequencies + - frequencies for 59233 distinct haplotypes in 31 populations; 856067 total frequencies [Fan2022] - 22 marker definitions based on 338 SNPs and 25 indels [Yu2022G1] diff --git a/dbbuild/build.py b/dbbuild/build.py index 89931cd..af1a69b 100755 --- a/dbbuild/build.py +++ b/dbbuild/build.py @@ -30,9 +30,9 @@ def main( index.update_marker_names() index.markers.to_csv("marker.csv", index=False) index.indels.to_csv("indels.csv", index=False) - index.frequencies.to_csv( - "frequency.csv.gz", index=False, float_format="%.5f", compression="gzip" - ) + frequencies = index.frequencies + frequencies = cleanup_frequencies(frequencies) + frequencies.to_csv("frequency.csv.gz", index=False, float_format="%.5f", compression="gzip") index.populations.to_csv("population.csv", index=False) index.merges.to_csv("merged.csv", index=False) repeats = flag_repeats(Path(rmsk_path) / "rmsk.txt.gz", "marker.csv", delta=25) @@ -60,6 +60,22 @@ def validate_paths(dbsnp_path, rmsk_path, chain_path): raise FileNotFoundError(",".join(missing)) +def cleanup_frequencies(freq): + freq["NumVars"] = freq.Allele.apply(lambda x: x.count("|") + 1) + freq.loc[(freq.Marker == "mh01NK-001") & (freq.Source == "Kidd2018"), "Marker"] = "mh01NH-01.v2" + freq.loc[(freq.Marker == "mh01NK-001") & (freq.Source == "Turchi2019"), "Marker"] = "mh01NH-01.v2" + freq.loc[(freq.Marker == "mh01NK-001") & (freq.Source == "Gandotra2020"), "Marker"] = "mh01NH-01.v2" + freq.loc[(freq.Marker == "mh01NK-001") & (freq.Source == "Staadig2021"), "Marker"] = "mh01NH-01.v1" + freq.loc[(freq.Marker.str.startswith(("mh05KK-023", "mh05KK-020"))) & (freq.Source == "Kidd2018") & (freq.NumVars == 3), "Marker"] = "mh05KK-023.v1" + freq.loc[(freq.Marker.str.startswith(("mh05KK-023", "mh05KK-020"))) & (freq.Source == "Kidd2018") & (freq.NumVars == 4), "Marker"] = "mh05KK-023.v2" + freq.loc[(freq.Marker.str.startswith(("mh05KK-023", "mh05KK-020"))) & (freq.Source == "Turchi2019"), "Marker"] = "mh05KK-023.v1" + freq.loc[(freq.Marker.str.startswith(("mh05KK-023", "mh05KK-020"))) & (freq.Source == "Gandotra2020"), "Marker"] = "mh05KK-023.v3" + freq.loc[(freq.Marker.str.startswith("mh05KK-120")) & (freq.Source == "Kidd2018") & (freq.NumVars == 3), "Marker"] = "mh05KK-120.v1" + freq.loc[(freq.Marker.str.startswith("mh05KK-120")) & (freq.Source == "Kidd2018") & (freq.NumVars == 4), "Marker"] = "mh05KK-120.v2" + freq = freq.drop(columns="NumVars") + return freq + + def get_parser(): parser = ArgumentParser(description="MicroHapDB database build procedure") parser.add_argument("dbsnp_path") diff --git a/dbbuild/frequency.csv.gz b/dbbuild/frequency.csv.gz index 906ce9f..4aeecab 100644 Binary files a/dbbuild/frequency.csv.gz and b/dbbuild/frequency.csv.gz differ diff --git a/dbbuild/marker-aes.csv b/dbbuild/marker-aes.csv index d765b5c..2450003 100644 --- a/dbbuild/marker-aes.csv +++ b/dbbuild/marker-aes.csv @@ -36048,8 +36048,8 @@ mh06WL-017.v1,MXL,6.983 mh06WL-017.v1,PEL,7.292 mh06WL-017.v1,PJL,6.547 mh06WL-017.v1,PUR,7.729 -mh06WL-017.v1,SAS,8.805 -mh06WL-017.v1,STU,10.080 +mh06WL-017.v1,SAS,8.806 +mh06WL-017.v1,STU,10.085 mh06WL-017.v1,TSI,8.339 mh06WL-017.v1,YRI,6.634 mh06WL-017.v2,1KGP,8.679 diff --git a/dbbuild/marker.csv b/dbbuild/marker.csv index de0a12d..164d7b8 100644 --- a/dbbuild/marker.csv +++ b/dbbuild/marker.csv @@ -1109,7 +1109,7 @@ mh06SCUZJ-0278537,4,130,chr6,32588674,32588803,32588674;32588684;32588765;325888 mh06SHY-003,12,91,chr6,32605762,32605852,32605762;32605766;32605777;32605783;32605785;32605788;32605797;32605821;32605825;32605844;32605851;32605852,32573539;32573543;32573554;32573560;32573562;32573565;32573574;32573598;32573602;32573621;32573628;32573629,rs602427;rs9270967;rs9270968;rs9270969;rs602457;rs573809619;rs9270970;rs9270971;rs2760993;rs9270972;rs144123929;rs602875,Wu2021 mh06WL-050,27,300,chr6,32661208,32661507,32661208;32661214;32661215;32661219;32661221;32661238;32661245;32661250;32661255;32661269;32661287;32661289;32661297;32661310;32661314;32661332;32661333;32661334;32661335;32661462;32661463;32661482;32661490;32661492;32661504;32661505;32661507,32628985;32628991;32628992;32628996;32628998;32629015;32629022;32629027;32629032;32629046;32629064;32629066;32629074;32629087;32629091;32629109;32629110;32629111;32629112;32629239;32629240;32629259;32629267;32629269;32629281;32629282;32629284,rs28724236;rs117369774;rs117656997;rs9273560;rs9273561;rs281864341;rs281864337;rs41270893;rs73729446;rs28724237;rs9273584;rs28724238;rs9273588;rs117626117;rs9273595;rs281864289;rs9273608;rs281864287;rs9273609;rs559673115;rs281864275;rs3828786;rs199987570;rs9273685;rs9273695;rs9273696;rs114262759,Yu2022G3 mh06WL-017.v2,16,100,chr6,32663167,32663266,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219,Yu2022G4 -mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663288;32663293;32663298;32663302;32663303;32663327;32663332;32663336;32663342;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631065;32631070;32631075;32631079;32631080;32631104;32631109;32631113;32631119;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs17843723;rs41270932;rs9274222;rs72844333;rs200098349;rs74222206;rs281863378;rs9274225;rs41270933;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 +mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663293;32663298;32663302;32663303;32663309;32663327;32663332;32663336;32663342;32663345;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs41270932;rs9274222;rs72844333;rs200098349;rs17843724;rs74222206;rs281863378;rs9274225;rs41270933;rs17613622;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 mh06LV-09,14,193,chr6,33056355,33056547,33056355;33056360;33056389;33056401;33056412;33056447;33056452;33056458;33056481;33056496;33056522;33056532;33056540;33056547,33024132;33024137;33024166;33024178;33024189;33024224;33024229;33024235;33024258;33024273;33024299;33024309;33024317;33024324,rs412735;rs570318069;rs449635;rs114484337;rs150884041;rs6457707;rs396638;rs6457708;rs12200756;rs435549;rs3130593;rs3130184;rs3130185;rs3130594,Voskoboinik2018 mh06WL-070,5,85,chr6,33893893,33893977,33893893;33893902;33893916;33893934;33893977,33861670;33861679;33861693;33861711;33861754,rs3800333;rs2031377;rs3800335;rs2031378;rs3800337,Yu2022G1 mh06WL-075,5,134,chr6,36734497,36734630,36734497;36734507;36734602;36734610;36734630,36702274;36702284;36702379;36702387;36702407,rs236453;rs236452;rs236451;rs77394127;rs236450,Yu2022G1 diff --git a/dbbuild/sources/byrskabishop2022/frequency.csv b/dbbuild/sources/byrskabishop2022/frequency.csv index 6fdfc44..19e4345 100644 --- a/dbbuild/sources/byrskabishop2022/frequency.csv +++ b/dbbuild/sources/byrskabishop2022/frequency.csv @@ -330495,537 +330495,540 @@ mh06WL-014.v2,YRI,C|G|G|A|C,0.19421 mh06WL-014.v2,YRI,C|G|G|A|T,0.04545 mh06WL-014.v2,YRI,C|G|G|G|C,0.19835 mh06WL-014.v2,YRI,C|G|G|G|T,0.07025 -mh06WL-017.v1,1KGP,A|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|T|G,0.00019 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|A|A|C|A|T|T|A|G|C|T|G|A|C|T|C|G|A|A|A|T|G|T|G|T|A,0.00038 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|A|A|C|A|T|T|A|G|C|T|G|A|C|T|T|A|A|G|A|T|A|T|G|C|A,0.00019 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|A|A|C|T|T|T|A|G|C|T|G|A|C|T|T|A|A|G|A|T|A|T|G|C|A,0.04407 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|A|A|C|T|T|T|A|G|T|T|G|A|C|T|T|A|A|G|A|C|A|T|G|C|A,0.00019 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|A|A|C|T|T|T|A|G|T|T|G|A|C|T|T|A|A|G|A|T|A|T|G|C|A,0.03541 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|G|A|C|A|C|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|T|G,0.00019 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|C|G|A|A|A|T|G|T|G|T|A,0.00038 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|G|A|C|T|T|T|A|G|C|T|G|A|C|T|C|G|A|A|A|T|G|T|G|T|A,0.00038 -mh06WL-017.v1,1KGP,A|C|C|G|C|A|G|A|C|T|T|T|A|G|C|T|G|A|C|T|T|A|A|G|A|T|A|T|G|C|A,0.11875 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|C|A|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|T|G,0.08333 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|C|A|A|C|T|G|A|C|T|T|G|A|A|A|C|A|T|G|C|A,0.03637 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|C|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|T|G,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|A|C|T|G|A|C|T|T|G|A|A|A|C|A|T|G|C|A,0.13433 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|T|G,0.06928 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|C|C|G|A|A|A|C|A|T|G|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|C|C|G|A|A|A|T|G|T|G|T|A,0.04426 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|C|G|A|A|A|T|A|T|G|T|G,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|C|G|A|A|A|T|G|T|G|T|A,0.12760 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|T|A|A|G|A|T|A|T|G|C|A,0.00423 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|T|G|A|A|A|C|G|T|G|T|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|T|G|A|A|A|T|G|T|G|T|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|T|G|A|A|T|T|A|C|A|C|A,0.00038 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|T|T|G|T|A|A|T|G|T|G|C|G,0.00154 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|A|G|T|T|G|A|C|T|T|A|A|G|A|T|A|T|G|C|A,0.00038 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|T|A|C|A|C|A,0.00192 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|C|A|T|T|G|G|C|T|G|G|T|T|T|G|A|A|T|T|A|C|A|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|A|G|C|T|G|A|C|C|C|G|A|A|A|T|G|T|G|T|A,0.00038 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|A|G|C|T|G|A|C|T|C|G|A|A|A|T|G|T|G|T|A,0.00096 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|A|C|A|T|G|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|C|A|C|A|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|T|A|C|A|C|A,0.14550 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|T|A|C|A|C|G,0.00038 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|T|A|T|G|C|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|T|A|T|G|T|A,0.00019 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|T|G|A|A|T|T|A|T|G|T|G,0.00038 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|G|T|T|T|G|A|A|T|T|A|C|A|C|A,0.01559 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|G|C|A|T|T|A|G|C|C|A|G|C|T|C|G|A|A|A|T|A|T|G|T|G,0.00038 -mh06WL-017.v1,1KGP,G|C|C|A|C|A|G|G|C|A|T|T|A|G|C|T|G|A|C|C|C|G|A|A|A|T|G|T|G|T|A,0.00038 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+mh06WL-017.v1,TSI,A|C|C|G|C|A|G|A|C|T|T|T|A|G|C|T|G|A|T|T|A|A|G|G|A|T|A|A|T|G|C|A,0.08879 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|T|C|G|A|G|A|A|T|A|A|T|G|T|G,0.05140 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|C|A|A|C|T|G|A|T|T|G|A|G|A|A|C|A|A|T|G|C|A,0.05140 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|T|A|A|C|T|G|A|T|T|G|A|G|A|A|C|A|A|T|G|C|A,0.13084 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|C|A|G|T|C|G|A|G|A|A|T|A|A|T|G|T|G,0.07477 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|C|G|A|G|A|A|T|G|A|T|G|T|A,0.04673 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|T|C|G|A|G|A|A|T|G|A|T|G|T|A,0.17290 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|T|T|A|A|G|G|A|T|A|A|T|G|C|A,0.01402 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|C|A|T|T|G|G|C|T|G|A|T|T|G|A|A|A|T|T|A|G|C|A|C|A,0.00467 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|T|A|T|T|A|G|C|T|G|A|C|C|G|A|G|A|A|T|G|A|T|G|T|A,0.00467 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|T|A|T|T|A|G|C|T|G|A|T|C|G|A|G|A|A|T|G|A|T|G|T|A,0.00935 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|G|A|A|A|T|T|A|G|C|A|C|A,0.21495 +mh06WL-017.v1,TSI,G|C|C|A|C|A|G|G|C|A|T|T|A|G|C|T|G|A|T|T|G|T|G|A|A|T|G|A|T|G|C|G,0.00935 +mh06WL-017.v1,TSI,G|C|T|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|T|C|G|A|G|A|A|T|A|A|T|G|T|G,0.03738 +mh06WL-017.v1,YRI,A|C|C|G|C|A|A|A|C|T|T|T|A|G|C|T|G|A|T|T|A|A|G|G|A|T|A|A|T|G|C|A,0.05372 +mh06WL-017.v1,YRI,A|C|C|G|C|A|A|A|C|T|T|T|A|G|T|T|G|A|T|T|A|A|G|G|A|T|A|A|T|G|C|A,0.02066 +mh06WL-017.v1,YRI,A|C|C|G|C|A|G|A|C|T|T|T|A|G|C|T|G|A|T|T|A|A|G|G|A|T|A|A|T|G|C|A,0.11983 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|T|C|G|A|G|A|A|T|A|A|T|G|T|G,0.01240 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|C|A|A|C|T|G|A|T|T|G|A|G|A|A|C|A|A|T|G|C|A,0.03719 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|T|A|A|C|T|G|A|T|T|G|A|G|A|A|C|A|A|T|G|C|A,0.25620 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|C|A|G|T|C|G|A|G|A|A|T|A|A|T|G|T|G,0.09091 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|C|C|G|A|G|A|A|T|G|A|T|G|T|A,0.01653 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|T|C|G|A|G|A|A|T|G|A|T|G|T|A,0.14876 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|T|A|G|C|T|G|A|T|T|G|A|G|A|A|T|G|A|T|G|T|A,0.00413 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|C|A|T|T|G|G|C|T|G|A|T|T|G|A|A|A|T|T|A|G|C|A|C|A,0.00826 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|A|T|T|G|A|A|A|T|T|A|G|C|A|C|A,0.18182 +mh06WL-017.v1,YRI,G|C|C|A|C|A|G|A|T|A|T|T|G|G|C|T|G|G|T|T|G|A|A|A|T|T|A|G|C|A|C|A,0.04545 +mh06WL-017.v1,YRI,G|C|T|A|C|A|G|A|C|A|C|T|A|G|C|C|A|G|T|C|G|A|G|A|A|T|A|A|T|G|T|G,0.00413 mh06WL-017.v2,1KGP,A|C|C|A|C|A|G|A|C|A|C|T|A|G|C|C,0.00019 mh06WL-017.v2,1KGP,A|C|C|G|C|A|A|A|C|A|T|T|A|G|C|T,0.00058 mh06WL-017.v2,1KGP,A|C|C|G|C|A|A|A|C|T|T|T|A|G|C|T,0.04407 diff --git a/dbbuild/sources/byrskabishop2022/haplotypes.csv.gz b/dbbuild/sources/byrskabishop2022/haplotypes.csv.gz index e972069..5aac41e 100644 Binary files a/dbbuild/sources/byrskabishop2022/haplotypes.csv.gz and b/dbbuild/sources/byrskabishop2022/haplotypes.csv.gz differ diff --git a/dbbuild/sources/byrskabishop2022/marker-aes.csv b/dbbuild/sources/byrskabishop2022/marker-aes.csv index d765b5c..2450003 100644 --- a/dbbuild/sources/byrskabishop2022/marker-aes.csv +++ b/dbbuild/sources/byrskabishop2022/marker-aes.csv @@ -36048,8 +36048,8 @@ mh06WL-017.v1,MXL,6.983 mh06WL-017.v1,PEL,7.292 mh06WL-017.v1,PJL,6.547 mh06WL-017.v1,PUR,7.729 -mh06WL-017.v1,SAS,8.805 -mh06WL-017.v1,STU,10.080 +mh06WL-017.v1,SAS,8.806 +mh06WL-017.v1,STU,10.085 mh06WL-017.v1,TSI,8.339 mh06WL-017.v1,YRI,6.634 mh06WL-017.v2,1KGP,8.679 diff --git a/dbbuild/sources/byrskabishop2022/marker-latest.csv b/dbbuild/sources/byrskabishop2022/marker-latest.csv index de0a12d..164d7b8 100644 --- a/dbbuild/sources/byrskabishop2022/marker-latest.csv +++ b/dbbuild/sources/byrskabishop2022/marker-latest.csv @@ -1109,7 +1109,7 @@ mh06SCUZJ-0278537,4,130,chr6,32588674,32588803,32588674;32588684;32588765;325888 mh06SHY-003,12,91,chr6,32605762,32605852,32605762;32605766;32605777;32605783;32605785;32605788;32605797;32605821;32605825;32605844;32605851;32605852,32573539;32573543;32573554;32573560;32573562;32573565;32573574;32573598;32573602;32573621;32573628;32573629,rs602427;rs9270967;rs9270968;rs9270969;rs602457;rs573809619;rs9270970;rs9270971;rs2760993;rs9270972;rs144123929;rs602875,Wu2021 mh06WL-050,27,300,chr6,32661208,32661507,32661208;32661214;32661215;32661219;32661221;32661238;32661245;32661250;32661255;32661269;32661287;32661289;32661297;32661310;32661314;32661332;32661333;32661334;32661335;32661462;32661463;32661482;32661490;32661492;32661504;32661505;32661507,32628985;32628991;32628992;32628996;32628998;32629015;32629022;32629027;32629032;32629046;32629064;32629066;32629074;32629087;32629091;32629109;32629110;32629111;32629112;32629239;32629240;32629259;32629267;32629269;32629281;32629282;32629284,rs28724236;rs117369774;rs117656997;rs9273560;rs9273561;rs281864341;rs281864337;rs41270893;rs73729446;rs28724237;rs9273584;rs28724238;rs9273588;rs117626117;rs9273595;rs281864289;rs9273608;rs281864287;rs9273609;rs559673115;rs281864275;rs3828786;rs199987570;rs9273685;rs9273695;rs9273696;rs114262759,Yu2022G3 mh06WL-017.v2,16,100,chr6,32663167,32663266,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219,Yu2022G4 -mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663288;32663293;32663298;32663302;32663303;32663327;32663332;32663336;32663342;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631065;32631070;32631075;32631079;32631080;32631104;32631109;32631113;32631119;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs17843723;rs41270932;rs9274222;rs72844333;rs200098349;rs74222206;rs281863378;rs9274225;rs41270933;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 +mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663293;32663298;32663302;32663303;32663309;32663327;32663332;32663336;32663342;32663345;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs41270932;rs9274222;rs72844333;rs200098349;rs17843724;rs74222206;rs281863378;rs9274225;rs41270933;rs17613622;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 mh06LV-09,14,193,chr6,33056355,33056547,33056355;33056360;33056389;33056401;33056412;33056447;33056452;33056458;33056481;33056496;33056522;33056532;33056540;33056547,33024132;33024137;33024166;33024178;33024189;33024224;33024229;33024235;33024258;33024273;33024299;33024309;33024317;33024324,rs412735;rs570318069;rs449635;rs114484337;rs150884041;rs6457707;rs396638;rs6457708;rs12200756;rs435549;rs3130593;rs3130184;rs3130185;rs3130594,Voskoboinik2018 mh06WL-070,5,85,chr6,33893893,33893977,33893893;33893902;33893916;33893934;33893977,33861670;33861679;33861693;33861711;33861754,rs3800333;rs2031377;rs3800335;rs2031378;rs3800337,Yu2022G1 mh06WL-075,5,134,chr6,36734497,36734630,36734497;36734507;36734602;36734610;36734630,36702274;36702284;36702379;36702387;36702407,rs236453;rs236452;rs236451;rs77394127;rs236450,Yu2022G1 diff --git a/dbbuild/sources/byrskabishop2022/util.py b/dbbuild/sources/byrskabishop2022/util.py index f5f5506..4141c63 100644 --- a/dbbuild/sources/byrskabishop2022/util.py +++ b/dbbuild/sources/byrskabishop2022/util.py @@ -46,6 +46,9 @@ def __init__(self, vcf, refr_fasta): def get_haplotypes(self, chrom, positions): reference = self.get_reference_haplotype(chrom, positions) + if len(reference) != len(positions): + message = f"variant count mismatch: {len(reference)} vs {len(positions)}" + raise ValueError(message) haplotypes = dict() for sample in self.samples: haplotypes[sample] = (Haplotype(reference), Haplotype(reference)) diff --git a/dbbuild/sources/yu2022g1/README.md b/dbbuild/sources/yu2022g1/README.md index cb72605..0ea7100 100644 --- a/dbbuild/sources/yu2022g1/README.md +++ b/dbbuild/sources/yu2022g1/README.md @@ -40,10 +40,12 @@ mh06WL-068b,3,247,chr6,130615104,130615350,130615104;130615240;130615350,1309362 Oddly, the marker mh06WL-069 is defined twice in Group 1, first at the locus chr6:32630944-32631142 and second at the locus chr6:108031328-108031471. The first definition perfectly matches the definition for mh06WL-017 in Group 2, both of which overlap with the marker mh06WL-037 defined in Group 4. The Group 1 definition for mh06WL-069 was updated to use the name mh06WL-017. The label mh06WL-037 ends up getting merged with mh06WL-017 in the final build. +Also, we noted discrepancies between the RSIDs and the GRCh37 positions for the 32-SNP 199 bp definition at this locus. Accordingly, rs58770498 was manually replaced with rs17843724 and rs17843723 with rs17843723 to match the indicated positions in the original published definition for this marker. + ``` $ grep -e mh06WL-069 -e mh06WL-037 -e mh06WL-017 microhapdb/data/marker.csv -mh06WL-017.v2,16,100,chr6,32663167,32663266,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043,rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426,Yu2022G4 -mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663288;32663293;32663298;32663302;32663303;32663327;32663332;32663336;32663342;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631065;32631070;32631075;32631079;32631080;32631104;32631109;32631113;32631119;32631129;32631130;32631133;32631142,rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs58770498;rs281863382;rs281863378;rs281863375;rs281863371;rs17843723;rs281863364;rs281863363;rs281863362;rs281863357,Yu2022G1;Yu2022G2 +mh06WL-017.v2,16,100,chr6,32663167,32663266,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219,Yu2022G4 +mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663293;32663298;32663302;32663303;32663309;32663327;32663332;32663336;32663342;32663345;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs41270932;rs9274222;rs72844333;rs200098349;rs17843724;rs74222206;rs281863378;rs9274225;rs41270933;rs17613622;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 mh06WL-069,3,144,chr6,107710124,107710267,107710124;107710141;107710267,108031328;108031345;108031471,rs9386660;rs539627870;rs2748441,Yu2022G1 $ grep -e mh06WL-017 -e mh06WL-037 -e mh06WL-069 microhapdb/data/merged.csv mh06WL-037,mh06WL-017 diff --git a/dbbuild/sources/yu2022g1/Yu2022-TableS1.tsv b/dbbuild/sources/yu2022g1/Yu2022-TableS1.tsv index df91632..4f6793b 100644 --- a/dbbuild/sources/yu2022g1/Yu2022-TableS1.tsv +++ b/dbbuild/sources/yu2022g1/Yu2022-TableS1.tsv @@ -259,7 +259,7 @@ mh05WL-073 172122829;172122833;172122939;172122980 rs7701150;rs78422403;rs772134 mh05WL-074 165749755;165749891;165749904 rs6876914;rs35855229;rs76228434 4.03 mh05WL-075 136493820;136493839;136493923;136494011 rs1434664;rs1434665;rs11745960;rs55909424 4.03 mh05WL-076 29503392;29503454;29503553;29503586 rs1354575;rs182780;rs191312;rs78242558 4.02 -mh06WL-069 32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142 rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs58770498;rs281863382;rs281863378;rs281863375;rs281863371;rs17843723;rs281863364;rs281863363;rs281863362;rs281863357 15.69 +mh06WL-069 32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142 rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs17843724;rs281863382;rs281863378;rs281863375;rs281863371;rs17613622;rs281863364;rs281863363;rs281863362;rs281863357 15.69 mh06WL-018 168961083;168961168;168961183;168961185;168961192;168961205;168961251;168961252;168961257 rs34170156;rs12526829;rs10945514;rs200538603;rs57987480;rs55685832;rs10945516;rs13215061;rs372903846 14.09 mh06WL-019 786166;786213;786222;786223 rs12055421;rs12055469;rs9505149;rs9392876 10.87 mh06WL-066 31274441;31274449;31274513;31274555;31274580;31274582;31274586;31274619;31274630;31274634 rs9468942;rs35647108;rs6931873;rs10484554;rs184149624;rs9468944;rs561074738;rs9264944;rs118169956;rs9264946 7.50 diff --git a/dbbuild/sources/yu2022g1/marker.csv b/dbbuild/sources/yu2022g1/marker.csv index 105fe87..93f5d68 100644 --- a/dbbuild/sources/yu2022g1/marker.csv +++ b/dbbuild/sources/yu2022g1/marker.csv @@ -259,7 +259,7 @@ mh05WL-073,,4,,chr5,,rs7701150;rs78422403;rs7721347;rs7701713 mh05WL-074,,3,,chr5,,rs6876914;rs35855229;rs76228434 mh05WL-075,,4,,chr5,,rs1434664;rs1434665;rs11745960;rs55909424 mh05WL-076,,4,,chr5,,rs1354575;rs182780;rs191312;rs78242558 -mh06WL-017,,32,,chr6,,rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs58770498;rs281863382;rs281863378;rs281863375;rs281863371;rs17843723;rs281863364;rs281863363;rs281863362;rs281863357 +mh06WL-017,,32,,chr6,,rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs17843724;rs281863382;rs281863378;rs281863375;rs281863371;rs17613622;rs281863364;rs281863363;rs281863362;rs281863357 mh06WL-018,,9,,chr6,,rs34170156;rs12526829;rs10945514;rs200538603;rs57987480;rs55685832;rs10945516;rs13215061;rs372903846 mh06WL-019,,4,,chr6,,rs12055421;rs12055469;rs9505149;rs9392876 mh06WL-066a,,10,,chr6,,rs9468942;rs35647108;rs6931873;rs10484554;rs184149624;rs9468944;rs561074738;rs9264944;rs118169956;rs9264946 diff --git a/dbbuild/sources/yu2022g2/Yu2022-TableS2.tsv b/dbbuild/sources/yu2022g2/Yu2022-TableS2.tsv index d8427b2..687d3f1 100755 --- a/dbbuild/sources/yu2022g2/Yu2022-TableS2.tsv +++ b/dbbuild/sources/yu2022g2/Yu2022-TableS2.tsv @@ -112,7 +112,7 @@ mh05WL-030 56292990;56293009;56293054;56293077;56293149 rs57258507;rs17732378;rs mh05WL-031 146337694;146337725;146337743;146337873 rs7726431;rs143876253;rs13170982;rs17105785 4.20 4 180 mh05WL-013 62073698;62073771;62073783;62073792;62073794;62073834 rs7715472;rs2642778;rs2591790;rs2591791;rs2642779;rs2642780 4.16 6 137 mh05WL-033 141129129;141129204;141129208;141129248 rs3797057;rs32946;rs117055966;rs32945 4.13 4 120 -mh06WL-017 32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142 rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs58770498;rs281863382;rs281863378;rs281863375;rs281863371;rs17843723;rs281863364;rs281863363;rs281863362;rs281863357 15.69 6.43 32 199 +mh06WL-017 32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142 rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs17843724;rs281863382;rs281863378;rs281863375;rs281863371;rs17613622;rs281863364;rs281863363;rs281863362;rs281863357 15.69 6.43 32 199 mh06WL-018 168961083;168961168;168961183;168961185;168961192;168961205;168961251;168961252;168961257 rs34170156;rs12526829;rs10945514;rs200538603;rs57987480;rs55685832;rs10945516;rs13215061;rs372903846 14.10 9 175 mh06WL-019 786166;786213;786222;786223 rs12055421;rs12055469;rs9505149;rs9392876 10.87 4 58 mh06WL-004 110655384;110655443;110655536;110655552 rs9374163;rs9372250;rs9320324;rs9320325 6.88 4 169 diff --git a/dbbuild/sources/yu2022g2/marker.csv b/dbbuild/sources/yu2022g2/marker.csv index 5d7fb88..d7765aa 100644 --- a/dbbuild/sources/yu2022g2/marker.csv +++ b/dbbuild/sources/yu2022g2/marker.csv @@ -112,7 +112,7 @@ mh05WL-030,,5,,chr5,,rs57258507;rs17732378;rs61467430;rs58051462;rs76933101 mh05WL-031,,4,,chr5,,rs7726431;rs143876253;rs13170982;rs17105785 mh05WL-013,,6,,chr5,,rs7715472;rs2642778;rs2591790;rs2591791;rs2642779;rs2642780 mh05WL-033,,4,,chr5,,rs3797057;rs32946;rs117055966;rs32945 -mh06WL-017,,32,,chr6,,rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs58770498;rs281863382;rs281863378;rs281863375;rs281863371;rs17843723;rs281863364;rs281863363;rs281863362;rs281863357 +mh06WL-017,,32,,chr6,,rs281863504;rs281863503;rs281863502;rs281863499;rs281863486;rs281863485;rs35986240;rs281863467;rs281863466;rs281863464;rs281863463;rs281863439;rs281863431;rs281863430;rs281863427;rs281863426;rs281863425;rs281863414;rs281863406;rs281863401;rs281863398;rs281863397;rs17843724;rs281863382;rs281863378;rs281863375;rs281863371;rs17613622;rs281863364;rs281863363;rs281863362;rs281863357 mh06WL-018,,9,,chr6,,rs34170156;rs12526829;rs10945514;rs200538603;rs57987480;rs55685832;rs10945516;rs13215061;rs372903846 mh06WL-019,,4,,chr6,,rs12055421;rs12055469;rs9505149;rs9392876 mh06WL-004,,4,,chr6,,rs9374163;rs9372250;rs9320324;rs9320325 diff --git a/microhapdb/data/frequency.csv.gz b/microhapdb/data/frequency.csv.gz index 906ce9f..4aeecab 100644 Binary files a/microhapdb/data/frequency.csv.gz and b/microhapdb/data/frequency.csv.gz differ diff --git a/microhapdb/data/marker-aes.csv b/microhapdb/data/marker-aes.csv index d765b5c..2450003 100644 --- a/microhapdb/data/marker-aes.csv +++ b/microhapdb/data/marker-aes.csv @@ -36048,8 +36048,8 @@ mh06WL-017.v1,MXL,6.983 mh06WL-017.v1,PEL,7.292 mh06WL-017.v1,PJL,6.547 mh06WL-017.v1,PUR,7.729 -mh06WL-017.v1,SAS,8.805 -mh06WL-017.v1,STU,10.080 +mh06WL-017.v1,SAS,8.806 +mh06WL-017.v1,STU,10.085 mh06WL-017.v1,TSI,8.339 mh06WL-017.v1,YRI,6.634 mh06WL-017.v2,1KGP,8.679 diff --git a/microhapdb/data/marker.csv b/microhapdb/data/marker.csv index de0a12d..164d7b8 100644 --- a/microhapdb/data/marker.csv +++ b/microhapdb/data/marker.csv @@ -1109,7 +1109,7 @@ mh06SCUZJ-0278537,4,130,chr6,32588674,32588803,32588674;32588684;32588765;325888 mh06SHY-003,12,91,chr6,32605762,32605852,32605762;32605766;32605777;32605783;32605785;32605788;32605797;32605821;32605825;32605844;32605851;32605852,32573539;32573543;32573554;32573560;32573562;32573565;32573574;32573598;32573602;32573621;32573628;32573629,rs602427;rs9270967;rs9270968;rs9270969;rs602457;rs573809619;rs9270970;rs9270971;rs2760993;rs9270972;rs144123929;rs602875,Wu2021 mh06WL-050,27,300,chr6,32661208,32661507,32661208;32661214;32661215;32661219;32661221;32661238;32661245;32661250;32661255;32661269;32661287;32661289;32661297;32661310;32661314;32661332;32661333;32661334;32661335;32661462;32661463;32661482;32661490;32661492;32661504;32661505;32661507,32628985;32628991;32628992;32628996;32628998;32629015;32629022;32629027;32629032;32629046;32629064;32629066;32629074;32629087;32629091;32629109;32629110;32629111;32629112;32629239;32629240;32629259;32629267;32629269;32629281;32629282;32629284,rs28724236;rs117369774;rs117656997;rs9273560;rs9273561;rs281864341;rs281864337;rs41270893;rs73729446;rs28724237;rs9273584;rs28724238;rs9273588;rs117626117;rs9273595;rs281864289;rs9273608;rs281864287;rs9273609;rs559673115;rs281864275;rs3828786;rs199987570;rs9273685;rs9273695;rs9273696;rs114262759,Yu2022G3 mh06WL-017.v2,16,100,chr6,32663167,32663266,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219,Yu2022G4 -mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663288;32663293;32663298;32663302;32663303;32663327;32663332;32663336;32663342;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631065;32631070;32631075;32631079;32631080;32631104;32631109;32631113;32631119;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs17843723;rs41270932;rs9274222;rs72844333;rs200098349;rs74222206;rs281863378;rs9274225;rs41270933;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 +mh06WL-017.v1,32,199,chr6,32663167,32663365,32663167;32663168;32663169;32663172;32663190;32663191;32663214;32663218;32663219;32663222;32663223;32663252;32663261;32663262;32663265;32663266;32663267;32663281;32663293;32663298;32663302;32663303;32663309;32663327;32663332;32663336;32663342;32663345;32663352;32663353;32663356;32663365,32630944;32630945;32630946;32630949;32630967;32630968;32630991;32630995;32630996;32630999;32631000;32631029;32631038;32631039;32631042;32631043;32631044;32631058;32631070;32631075;32631079;32631080;32631086;32631104;32631109;32631113;32631119;32631122;32631129;32631130;32631133;32631142,rs71542446;rs41270931;rs28724261;rs71542447;rs2854267;rs9274216;rs35986240;rs201930518;rs17613599;rs71542448;rs9274217;rs58770498;rs17613606;rs9274218;rs115495316;rs9274219;rs9274220;rs2856703;rs41270932;rs9274222;rs72844333;rs200098349;rs17843724;rs74222206;rs281863378;rs9274225;rs41270933;rs17613622;rs17613629;rs17613636;rs281863362;rs9274227,Yu2022G1;Yu2022G2 mh06LV-09,14,193,chr6,33056355,33056547,33056355;33056360;33056389;33056401;33056412;33056447;33056452;33056458;33056481;33056496;33056522;33056532;33056540;33056547,33024132;33024137;33024166;33024178;33024189;33024224;33024229;33024235;33024258;33024273;33024299;33024309;33024317;33024324,rs412735;rs570318069;rs449635;rs114484337;rs150884041;rs6457707;rs396638;rs6457708;rs12200756;rs435549;rs3130593;rs3130184;rs3130185;rs3130594,Voskoboinik2018 mh06WL-070,5,85,chr6,33893893,33893977,33893893;33893902;33893916;33893934;33893977,33861670;33861679;33861693;33861711;33861754,rs3800333;rs2031377;rs3800335;rs2031378;rs3800337,Yu2022G1 mh06WL-075,5,134,chr6,36734497,36734630,36734497;36734507;36734602;36734610;36734630,36702274;36702284;36702379;36702387;36702407,rs236453;rs236452;rs236451;rs77394127;rs236450,Yu2022G1 diff --git a/microhapdb/marker.py b/microhapdb/marker.py index cefe0f9..23dc773 100644 --- a/microhapdb/marker.py +++ b/microhapdb/marker.py @@ -338,6 +338,9 @@ def print_detail_targetseq_sequence(self, blocks, out): def print_detail_targetseq_alleles(self, blocks, out): for allele in self.alleles: allelevars = allele.split("|") + if len(allelevars) != len(self.variant_lengths): + message = f"num var mismatch ({self.name}): {len(allelevars)} vs {len(self.variant_lengths)}" + raise ValueError(message) n = -1 for blocktype, blocklength in blocks: if blocktype == "span": diff --git a/microhapdb/tests/test_cli.py b/microhapdb/tests/test_cli.py index 0beb54c..87547ce 100644 --- a/microhapdb/tests/test_cli.py +++ b/microhapdb/tests/test_cli.py @@ -398,7 +398,7 @@ def test_main_marker_bad_code(): ("--population=SA000009J", "--marker=mh13KK-218.v1", None, 15), (None, "--marker=mh13KK-218.v1", "--allele=C|T|C|T", 129), (None, "--marker=mh14PK-72639", None, 227), - (None, None, None, 944734), + (None, None, None, 944737), ], ) def test_main_frequency_by_pop(pop, marker, allele, numrows, capsys): @@ -688,9 +688,9 @@ def test_cli_summarize(capsys): - 3053 marker definitions - 2413 distinct loci [frequencies] - - 59772 haplotypes + - 59753 haplotypes - 125 population groups - - 944733 total microhap frequencies + - 944736 total microhap frequencies """ print(observed) assert observed.strip() == expected.strip() diff --git a/microhapdb/tests/test_frequency.py b/microhapdb/tests/test_frequency.py index fb3c7bb..44a38c2 100644 --- a/microhapdb/tests/test_frequency.py +++ b/microhapdb/tests/test_frequency.py @@ -17,7 +17,7 @@ def test_assumptions(): num_allele_freqs_per_source = [ - 856064, # Byrska-Bishop2022 + 856067, # Byrska-Bishop2022 103, # Chen2019 4737, # Gandotra2020 33, # Hiroaki2015 @@ -35,20 +35,20 @@ def test_allele_frequencies(): >>> f = microhapdb.frequencies >>> f[(f.Marker == "mh15CP-003") & (f.Population == "YRI")] Marker Population Allele Frequency Source - 716562 mh15CP-003 YRI A|A|C 0.02893 Byrska-Bishop2022 - 716563 mh15CP-003 YRI A|G|A 0.59091 Byrska-Bishop2022 - 716564 mh15CP-003 YRI A|G|C 0.38017 Byrska-Bishop2022 - 716565 mh15CP-003 YRI A|G|A 0.57400 Kidd2018 - 716566 mh15CP-003 YRI A|G|C 0.39800 Kidd2018 - 716567 mh15CP-003 YRI A|A|C 0.02800 Kidd2018 - 716568 mh15CP-003 YRI C|G|C 0.00000 Kidd2018 + 716565 mh15CP-003 YRI A|A|C 0.02893 Byrska-Bishop2022 + 716566 mh15CP-003 YRI A|G|A 0.59091 Byrska-Bishop2022 + 716567 mh15CP-003 YRI A|G|C 0.38017 Byrska-Bishop2022 + 716568 mh15CP-003 YRI A|G|A 0.57400 Kidd2018 + 716569 mh15CP-003 YRI A|G|C 0.39800 Kidd2018 + 716570 mh15CP-003 YRI A|A|C 0.02800 Kidd2018 + 716571 mh15CP-003 YRI C|G|C 0.00000 Kidd2018 >>> f.query("Marker == 'mh15CP-003' and Allele == 'A|A|C' and Population == 'FIN'") Marker Population Allele Frequency Source - 716439 mh15CP-003 FIN A|A|C 0.31818 Byrska-Bishop2022 - 716445 mh15CP-003 FIN A|A|C 0.31800 Kidd2018 + 716442 mh15CP-003 FIN A|A|C 0.31818 Byrska-Bishop2022 + 716448 mh15CP-003 FIN A|A|C 0.31800 Kidd2018 """ af = microhapdb.frequencies - assert af.shape == (944733, 5) + assert af.shape == (944736, 5) result = af[af.Marker == "mh21KK-315.v1"].Allele.unique() assert len(result) == 8 result = af[(af.Marker == "mh21KK-315.v1") & (af.Allele == "A|C|T")] @@ -86,3 +86,12 @@ def test_all_sources(marker, pop, allele, frequency): result = freq[(freq.Marker == marker) & (freq.Population == pop) & (freq.Allele == allele)] assert len(result) == 1 assert result.Frequency.iloc[0] == pytest.approx(frequency) + + +def test_all_consistent(): + inconsistent_markers = set() + for markerid, table in microhapdb.frequencies.groupby("Marker"): + numvars = set([a.count("|") + 1 for a in table.Allele]) + if len(numvars) > 1: + inconsistent_markers.add(markerid) + assert len(inconsistent_markers) == 0, sorted(inconsistent_markers) diff --git a/microhapdb/tests/test_marker.py b/microhapdb/tests/test_marker.py index 50b1a13..5898616 100644 --- a/microhapdb/tests/test_marker.py +++ b/microhapdb/tests/test_marker.py @@ -974,3 +974,46 @@ def test_locus_length(): loci[marker.locus].markers.append(marker) for locus in loci.values(): assert len(locus.target_seq) <= 610, locus.name + + +def test_mh06WL017v1(): + subset = microhapdb.markers[microhapdb.markers.Name == "mh06WL-017.v1"] + markers = list(Marker.objectify(subset)) + assert len(markers) == 1 + marker = markers[0] + assert len(marker) == 199 + print(marker.varrefs) + assert marker.varrefs == [ + "rs71542446", + "rs41270931", + "rs28724261", + "rs71542447", + "rs2854267", + "rs9274216", + "rs35986240", + "rs201930518", + "rs17613599", + "rs71542448", + "rs9274217", + "rs58770498", + "rs17613606", + "rs9274218", + "rs115495316", + "rs9274219", + "rs9274220", + "rs2856703", + "rs41270932", + "rs9274222", + "rs72844333", + "rs200098349", + "rs17843724", + "rs74222206", + "rs281863378", + "rs9274225", + "rs41270933", + "rs17613622", + "rs17613629", + "rs17613636", + "rs281863362", + "rs9274227", + ]