mskcc/vcf2maf

Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms

PerlDockerfileperlvcfmafvepisoforms
This is stars and forks stats for /mskcc/vcf2maf repository. As of 01 May, 2024 this repository has 336 stars and 216 forks.

vcfmaf To convert a VCF into a MAF, each variant must be mapped to only one of all possible gene transcripts/isoforms that it might affect. But even within a single isoform, a Missense_Mutation close enough to a Splice_Site, can be labeled as either in MAF format, but not as both. This selection of a single effect per variant, is often subjective. And that's what this project attempts to standardize. The vcf2maf and maf2maf scripts leave most of that responsibility to Ensembl's VEP, but allows you...
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