Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Abstract Background Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has not been fully evaluated....

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Detalhes bibliográficos

Principais autores:	Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, Rui Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, Chaonan Shi, Hongyun Zhang, Wei Dong, Hui Huang, Yun Li, Yanqun Le, Jun Sun, Zhiyu Peng
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-04-01
coleção:	BMC Medical Genomics
Assuntos:	WGS Sensitivity and PPV DP and breadth of coverage CNV Clinical diagnosis
Acesso em linha:	https://doi.org/10.1186/s12920-021-00948-5
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