We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
WEScover: selection between clinical whole exome sequencing and gene panel testing.
- Authors
Lee, In-Hee; Lin, Yufei; Alvarez, William Jefferson; Hernandez-Ferrer, Carles; Mandl, Kenneth D.; Kong, Sek Won
- 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 population-scale WES datasets, searching either by phenotype, by targeted gene panel(s) or by gene(s). Moreover, the application shows metrics from the Genome Aggregation Database to provide gene-centric view on breadth of coverage. Conclusions: WEScover allows users to efficiently query genes and phenotypes for the coverage of associated exons by WES and recommends use of panel tests for the genes with potential incomplete coverage by WES.
- Subjects
WEB-based user interfaces; MEDICAL research; PHENOTYPES; GENES; USER interfaces; GENETIC testing
- Publication
BMC Bioinformatics, 2021, Vol 22, Issue 1, p1
- ISSN
1471-2105
- Publication type
Article
- DOI
10.1186/s12859-021-04178-5