VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.

ABSTRACT:

Background

Next generation sequencing (NGS) provides a key technology for deciphering the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens of thousands non-reference coding variants, but only one or very few are expected to be significant for the relevant disorder. In a filtering stage, one employs family segregation, rarity in the population, predicted protein impact and evolutionary conservation as a means for shortening the variation list. However, narrowing down further towards culprit disease genes usually entails laborious seeking of gene-phenotype relationships, consulting numerous separate databases. Thus, a major challenge is to transition from the few hundred shortlisted genes to the most viable disease-causing candidates.

Results<

SUBMITTER: Stelzer G 

PROVIDER: S-EPMC4928145 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature