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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...

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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

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