WEScover: selection between clinical whole exome sequencing and gene panel testing.

ABSTRACT:

Background

Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns is the potential false negatives due to incomplete breadth and depth of coverage for several exons in clinically implicated genes. In some cases, a targeted gene panel testing may be a dependable option to ascertain true negatives for genomic variants in known disease-associated genes. We developed a web-based tool to quickly gauge whether all genes of interest would be reliably covered by WES or whether targeted gene panel testing should be considered instead to minimize false negatives in candidate genes.

Results

WEScover is a novel web application that provides an intuitive user interface for discovering breadth and depth of coverage across p

SUBMITTER: Lee IH 

PROVIDER: S-EPMC8139020 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature