The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.

ABSTRACT:

Background

Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole genome sequences (WGS). Fast, scalable solutions are needed for discovery research, for clinical applications, and for curation of massive public variant repositories such as dbSNP and gnomAD. In response, we have developed VVP, the VAAST Variant Prioritizer. VVP is ultrafast, scales to even the largest variant repositories and genome collections, and its outputs are designed to simplify clinical interpretation of variants of uncertain significance.

Results

We show that scoring the entire contents of dbSNP (> 155 million variants) requires only 95 min using a machine with 4 cpus and 16 GB of RAM, and that a 60X WGS can be p

SUBMITTER: Flygare S 

PROVIDER: S-EPMC5819680 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature