CooVar: co-occurring variant analyzer.

ABSTRACT:

Background

Evaluating the impact of genomic variations (GV) on protein-coding transcripts is an important step in identifying variants of functional significance. Currently available programs for variant annotation depend on external databases or annotate multiple variants affecting the same transcript independently, which limits program use to organisms available in these databases or results in potentially incorrect or incomplete annotations.

Findings

We have developed CooVar (Co-occurring Variant Analyzer), a database-independent program for assessing the impact of GVs on protein-coding transcripts. CooVar takes GVs, reference genome sequence, and protein-coding exons as input and provides annotated GVs and transcripts as output. Other than similar programs, CooVar consid

SUBMITTER: Vergara IA 

PROVIDER: S-EPMC3532326 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature