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

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. METHODS:...

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Detalles Bibliográficos
Autores principales: Sun, Yan, Liu, Fengxia, Fan, Chunna, Wang, Yaoshen, Song, Lijie, Fang, Zhonghai, Han, Rui, Wang, Zhonghua, Wang, Xiaodan, Yang, Ziying, Xu, Zhenpeng, Peng, Jiguang, Shi, Chaonan, Zhang, Hongyun, Dong, Wei, Huang, Hui, Li, Yun, Le, Yanqun, Sun, Jun, Peng, Zhiyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045368/
https://www.ncbi.nlm.nih.gov/pubmed/33849535
http://dx.doi.org/10.1186/s12920-021-00948-5

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