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    AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs

    The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) presented technical standards for interpretation and reporting of constitutional copy-number variants in ...

    Chunna Fan, Zhonghua Wang, Yan Sun, Jun Sun, ** Liu, Licheng Kang… in BMC Genomics (2021)

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