Abstract
Motivation Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, the potential for false negatives due to incomplete breadth and depth of coverage for some exons has been reported. In some cases, targeted gene panel testing could be a reliable option to ascertain true negatives for phenotype-associated genomic variants. We developed a tool for quickly gauging whether all genes of interest are comprehensively covered by WES or whether targeted gene panel testing should instead be considered to minimize false negatives in candidate genes.
Results WEScover is a novel web application providing an interface for discovering breadth and depth of coverage across population scale WES datasets, searching either by phenotype, by targeted gene panels and by genes. Moreover, the application shows metrics from the Genome Aggregation Database to provide gene-centric view on breadth of coverage.
Availability WEScover is available at http://gNOME.tchlab.org/WEScover/. The source code is available at https://github.com/bch-gnome/WEScover.
Contact sekwon.kong{at}childrens.harvard.edu