An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China

Exome sequencing has become an effective diagnostic method for Mendelian disorders. But the quality of services differs widely across laboratories in China, particularly in variant classification, even with the adoption of the ACMG guidelines. As an effort of quality control and improvement for bett...

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Detalles Bibliográficos
Autores principales: Zhang, Kuo, Lin, Guigao, Han, Dongsheng, Han, Yanxi, Wang, Jian, Shen, Yiping, Li, Jinming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667017/
https://www.ncbi.nlm.nih.gov/pubmed/33240328
http://dx.doi.org/10.3389/fgene.2020.582637

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667017/
https://www.ncbi.nlm.nih.gov/pubmed/33240328
http://dx.doi.org/10.3389/fgene.2020.582637

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