Tool: Functional Annotation Of Variant Calls (Vcf Files)
Here is a simple script (based on java/groovy) that does the following things for variant calls:
- Identifies parent gene segment (Exon/Intron/UTR)
- translates related codons (and identifies missense mutations)
- checks if variant is a known SNPs (dbSNP) or cancer-associated mutation (COSMIC)
Download links here: http://100bp.wordpress.com/2013/04/24/vcf-file-annotation/
The only prerequisite is an archive of refgene track (hg19) and latest (as of 2013) dbsnp/cosmic entries which goes with the distribution. Hope this will be useful
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