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Merge pull request #19 from lh3/readme-male
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README: remove PARs for males
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lh3 committed Mar 7, 2019
2 parents 04dd6f0 + e8d87c4 commit 329f429
Showing 1 changed file with 3 additions and 3 deletions.
6 changes: 3 additions & 3 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -7,7 +7,7 @@ cd hickit-0.1_x64-linux
# Map Dip-C reads and extract contacts (skip if you use your own pipeline)
./seqtk mergepe read1.fq.gz read2.fq.gz | ./pre-dip-c - | bwa mem -5SP -p hs37d5.fa - | gzip > aln.sam.gz
./k8 hickit.js vcf2tsv phased.vcf > phased_SNP.tsv # extract phased SNPs from VCF
./k8 hickit.js sam2seg -v phased_SNP.tsv aln.sam.gz | ./k8 hickit.js chronly - | gzip > contacts.seg.gz # for male
./k8 hickit.js sam2seg -v phased_SNP.tsv aln.sam.gz | ./k8 hickit.js chronly - | ./k8 hickit.js bedflt par.bed - | gzip > contacts.seg.gz # for male
#./k8 hickit.js sam2seg -v phased_SNP.tsv aln.sam.gz | ./k8 hickit.js chronly -y - | gzip > contacts.seg.gz # for female
./hickit -i contacts.seg.gz -o - | bgzip > contacts.pairs.gz # optional

Expand Down Expand Up @@ -174,7 +174,7 @@ hickit -i contacts.seg.gz -o - | bgzip > contacts.pairs.gz
When you have phased SNPs in VCF, you can generate contact pairs with the phase columns
```sh
hickit.js vcf2tsv NA12878_phased.vcf.gz > phased_SNP.tsv
hickit.js sam2seg -v phased_SNP.tsv aln.sam.gz | hickit.js chronly - | gzip > contacts.seg.gz
hickit.js sam2seg -v phased_SNP.tsv aln.sam.gz | hickit.js chronly - | hickit.js bedflt par.bed - | gzip > contacts.seg.gz
hickit -i contacts.seg.gz -o - | bgzip > contacts.pairs.gz
```
where `hickit.js chronly` filters out non-chromosomal contigs and
Expand All @@ -184,7 +184,7 @@ chr1 1010717 C T
chr1 1011531 T C
chr1 1013136 C G
```
Note that the above is for **male** samples. For **female** samples, the part `hickit.js chronly -` should be replaced by `hickit.js chronly -y -` to remove the Y chromosome.
Note that the above is for **male** samples. Here the pseudoautosomal regions (PARs, coordinates supplied in `par.bed`) are excluded from analysis. For **female** samples, the part `hickit.js chronly - | hickit.js bedflt par.bed -` should be replaced by `hickit.js chronly -y -` to remove the Y chromosome instead.

### <a name="impute"></a>Imputing missing phases (diploid single-cell Hi-C only)

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