Takes vcf file input and determines functional consequence of mutations with regard to UCSC known genes, refseq genes or ensembl genes. Will use UCSC known gene annotation by default. A correctly formatted CDS file must be used containing CDS sequences and gene table info (i.e. info from knownGene.txt for UCSC genes, refGene.txt for RefSeq or ensGene.txt for ensembl as downloaded from the UCSC downloads page [http://hgdownload.cse.ucsc.edu/downloads.html or ftp://hgdownload.cse.ucsc.edu/]) for the relevant gene set. This CDS file can be created using extractCDS.pl script or using the --DOWNLOAD_NEW option of this script.

Project Activity

See All Activity >

Follow Translate VCF

Translate VCF Web Site

You Might Also Like
ConnectWise Cybersecurity Management for MSPs Icon
ConnectWise Cybersecurity Management for MSPs

Software and support solutions to protect your clients’ critical business assets

ConnectWise SIEM (formerly Perch) offers threat detection and response backed by an in-house Security Operations Center (SOC). Defend against business email compromise, account takeovers, and see beyond your network traffic. Our team of threat analysts does all the tedium for you, eliminating the noise and sending only identified and verified treats to action on. Built with multi-tenancy, ConnectWise SIEM helps you keep clients safe with the best threat intel on the market.
Rate This Project
Login To Rate This Project

User Reviews

Be the first to post a review of Translate VCF!

Additional Project Details

Registered

2012-04-30