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

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 ge...

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Bibliographic Details
Main Authors: In-Hee Lee, Yufei Lin, William Jefferson Alvarez, Carles Hernandez-Ferrer, Kenneth D. Mandl, Sek Won Kong
Format: Article
Language:English
Published: BMC 2021-05-01
Series:BMC Bioinformatics
Subjects:
Genetic testing
False negative
Coverage
Whole exome sequencing
Gene panel testing
Online Access:https://doi.org/10.1186/s12859-021-04178-5

Internet

https://doi.org/10.1186/s12859-021-04178-5

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