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[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2022

Zhang Yuxin, Xue Jiangyang, Yan Lulu, Liu Yingwen, Zhuang Danyan, Xie Min, Chen Yibo, An Yu, Shen Yiping, Li Haibo

Abstract excerpt

OBJECTIVE: Through a retrospective large sample analysis of copy number variants in single center, we explored the technical standards for the interpretation and reporting of constitutional copy-number variants (CNVs) jointly proposed by the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) in 2019, analyzing its impact on CNVs ratings and the improvement in the...

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PMID: 35929928
DOI: 10.3760/cma.j.cn511374-20210519-00429

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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