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...

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Kuo Zhang, Guigao Lin, Dongsheng Han, Yanxi Han, Rongxue Peng, Jinming Li
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Frontiers Media S.A. 2022-03-01
Saila:	Frontiers in Genetics
Gaiak:	copy number variant classification and interpretation concordance ACMG-ClinGen technical standards inter-laboratory
Sarrera elektronikoa:	https://www.frontiersin.org/articles/10.3389/fgene.2022.829728/full
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