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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Medical Genomics
Subjects:
WGS
Sensitivity and PPV
DP and breadth of coverage
CNV
Clinical diagnosis
Online Access:https://doi.org/10.1186/s12920-021-00948-5

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