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Article

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

BMC bioinformatics - 20 May 2021

Lee In-Hee, Lin Yufei, Alvarez William Jefferson, Hernandez-Ferrer Carles, Mandl Kenneth D, Kong Sek Won

Abstract excerpt

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...

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Identifiers

PMID: 34016036
DOI: 10.1186/s12859-021-04178-5
PMCID: PMC8139020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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