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1,409 bytes added
, 17:17, 12 December 2009
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− | '''vcfCodingSnps''' is a [[SNP annotation]] tool that annotates coding variants in a [[VCF]] format input file. It takes a VCF as input and generates an annotated VCF file as output. | + | '''vcfCodingSnps''' is a [[SNP annotation]] tool that annotates coding variants in a [[VCF]] format input file. It takes a VCF as input and generates an annotated VCF file as output. |
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− | == Basic Usage Example == | + | == Basic Usage Example == |
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− | Here is an example of how <code>vcfCodingSnps</code> works: | + | Here is an example of how <code>vcfCodingSnps</code> works: |
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| vcfCodingSnps -s chrom1-CHB.vcf -g genelist.txt -o annotated-chrom1-CHB.vcf | | vcfCodingSnps -s chrom1-CHB.vcf -g genelist.txt -o annotated-chrom1-CHB.vcf |
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− | == Command Line Options == | + | == Command Line Options == |
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| -s ''SNP file'' Specifies the name of the input [[VCF]]-format SNP file | | -s ''SNP file'' Specifies the name of the input [[VCF]]-format SNP file |
− | -g ''genefile'' Specifies the name of the gene file, by default use gene list file in ASCII format generated by UCSC genome browser | + | -g ''genefile'' Specifies the name of the input gene file, by default use gene list file in ASCII format generated by UCSC genome browser |
| -o ''output file'' Specifies the name of the output VCF-format SNP file | | -o ''output file'' Specifies the name of the output VCF-format SNP file |
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− | == Input file infomation == | + | == Input File Infomation == |
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| + | An example headlines of input VCF file: |
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| + | ##format=VCFv3.2 |
| + | ##NA12891=../depthFilter/filtered.NA12891.chrom22.SLX.maq.SRP000032.2009_07.glf |
| + | ##NA12892=../depthFilter/filtered.NA12892.chrom22.SLX.maq.SRP000032.2009_07.glf |
| + | ##NA12878=../merged/NA12878.chrom22.merged.glf |
| + | ##minTotalDepth=0 |
| + | ##maxTotalDepth=1000 |
| + | ##minMapQuality=30 |
| + | ##minPosterior=0.9990 |
| + | ##program=glfTrio |
| + | ##versionDate=Tue Dec 1 00:42:24 2009 |
| + | #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12891 NA12892 NA12878 |
| + | 22 14439753 . a t 100 mapQ=0 depth=68;duples=homs;mac=2 GT:GQ:DP 1|1:100:40 0|0:81:28 1|0:84:0 |
| + | 22 14441250 . t c 59 mapQ=0 depth=40 GT:GQ:DP 1|1:56:25 1|1:31:15 1|1:32:0 |
| + | 22 14443154 . t g 45 mapQ=9 depth=92;duples=homs;mac=2 GT:GQ:DP 1|1:49:21 0|0:60:20 1|0:100:51 |
| + | 22 14446720 . c t 52 mapQ=0 depth=81;duples=homs;mac=2 GT:GQ:DP 1|1:23:31 0|0:23:34 1|0:76:16 |
| + | 22 14446721 . a g 49 mapQ=0 depth=82;duples=homs;mac=2 GT:GQ:DP 1|1:21:30 0|0:21:36 1|0:100:16 |
| + | 22 14449771 . g a 78 mapQ=27 depth=68;mac=1;tdt=1/1 GT:GQ:DP 1|0:64:21 0|0:75:36 1|0:28:11 |