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

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...

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Bibliografski detalji
Izdano u:BMC Bioinformatics
Glavni autori: Lee, In-Hee, Lin, Yufei, Alvarez, William Jefferson, Hernandez-Ferrer, Carles, Mandl, Kenneth D., Kong, Sek Won
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8139020/
https://ncbi.nlm.nih.gov/pubmed/34016036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-021-04178-5
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