VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.

ABSTRACT: Next-generation sequencing (NGS) technologies generate thousands to millions of genetic variants per sample. Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and consideration of multiple pathogenicity prediction scores. We have developed VPOT (variant prioritization ordering tool), a python-based command line tool that allows researchers to create a single fully customizable pathogenicity ranking score from any number of annotation values, each with a user-defined weighting. The use of VPOT can be informative when analyzing entire cohorts, as variants in a cohort can be prioritized. VPOT also provides additional functions to allow variant filtering based on a candidate gene list or by affected status in a fam

SUBMITTER: Ip E 

PROVIDER: S-EPMC7056850 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature