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

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dc.contributor.author Lee, In-Hee
dc.contributor.author Lin, Yufei
dc.contributor.author Jefferson Alvarez, William
dc.contributor.author Hernandez-Ferrer, Carles, 1987-
dc.contributor.author Mandl, Kenneth D.
dc.contributor.author Kong, Sek Won
dc.date.accessioned 2021-07-23T06:57:12Z
dc.date.available 2021-07-23T06:57:12Z
dc.date.issued 2021
dc.identifier.citation Lee IH, Lin Y, Jefferson Alvarez W, Hernandez-Ferrer C, Mandl K D, Kong S W. WEScover: selection between clinical whole exome sequencing and gene panel testing. BMC Bioinformatics. 2021 May 20;22(1):259. DOI: 10.1186/s12859-021-04178-5
dc.identifier.issn 1471-2105
dc.identifier.uri http://hdl.handle.net/10230/48281
dc.description.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.
dc.description.sponsorship The design of WEScover, data collection, analysis, interpretation and writing of the manuscript were supported by grants from the Boston Children’s Hospital Precision Link Biobank and from the National Institutes of Health (R01MH107205, R24OD024622, U01TR002623 and U01HG007530)
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.rights © In-Hee Lee et al. 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made
dc.rights.uri https://creativecommons.org/licenses/by/4.0/
dc.subject.other Seqüenciació total del genoma
dc.subject.other Cromosomes humans -- Anomalies -- Diagnòstic
dc.subject.other Gens
dc.subject.other Fenotip
dc.subject.other Exons
dc.title WEScover: selection between clinical whole exome sequencing and gene panel testing
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/s12859-021-04178-5
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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