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Update README.md
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cc2qe committed Mar 29, 2015
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Expand Up @@ -375,7 +375,8 @@ tumor.bam tumor BAM file(s) (comma separated BAMs for multiple libraries
speedseq var \
-o NA12878 \
-w annotations/ceph18.b37.include.2014-01-15.bed \
human_g1k_v37.fasta NA12878.bam
human_g1k_v37.fasta \
NA12878.bam
```

3. Use `speedseq sv` to call structural variants. The optional `-g` and `-d` flags perform breakend genotyping and read-depth calculation respectively
Expand All @@ -394,13 +395,19 @@ tumor.bam tumor BAM file(s) (comma separated BAMs for multiple libraries
1. Use `speedseq align` to produce a sorted, duplicate-marked, BAM alignment of each library.
```
speedseq align -o NA12878_S1 -R "@RG\tID:NA12878.S1\tSM:NA12878\tLB:lib1" \
human_g1k_v37.fasta NA12878.S1.1.fq.gz NA12878.S1.2.fq.gz
human_g1k_v37.fasta \
NA12878.S1.1.fq.gz \
NA12878.S1.2.fq.gz

speedseq align -o NA12878_S2 -R "@RG\tID:NA12878.S2\tSM:NA12878\tLB:lib2" \
human_g1k_v37.fasta NA12878.S2.1.fq.gz NA12878.S2.2.fq.gz
human_g1k_v37.fasta \
NA12878.S2.1.fq.gz \
NA12878.S2.2.fq.gz

speedseq align -o NA12878_S3 -R "@RG\tID:NA12878.S3\tSM:NA12878\tLB:lib3" \
human_g1k_v37.fasta NA12878.S3.1.fq.gz NA12878.S3.2.fq.gz
human_g1k_v37.fasta \
NA12878.S3.1.fq.gz \
NA12878.S3.2.fq.gz
```

2. Merge the samples
Expand Down Expand Up @@ -459,7 +466,10 @@ tumor.bam tumor BAM file(s) (comma separated BAMs for multiple libraries
speedseq var \
-o cephtrio \
-w annotations/ceph18.b37.include.2014-01-15.bed \
human_g1k_v37.fasta NA12877.bam NA12878.bam NA12879.bam
human_g1k_v37.fasta \
NA12877.bam \
NA12878.bam \
NA12879.bam
```

3. Use `speedseq sv` to call structural variants on multiple samples.
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