Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance

This study aimed to evaluate inter-laboratory classification concordance for copy number variants (CNVs) with a semiquantitative point-based scoring metric recommended by the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resources (ClinGen). A total of 234 CNVs distrib...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Kuo, Lin, Guigao, Han, Dongsheng, Han, Yanxi, Peng, Rongxue, Li, Jinming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960312/
https://www.ncbi.nlm.nih.gov/pubmed/35360839
http://dx.doi.org/10.3389/fgene.2022.829728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960312/
https://www.ncbi.nlm.nih.gov/pubmed/35360839
http://dx.doi.org/10.3389/fgene.2022.829728

Ejemplares similares