Expanding ACMG variant classification guidelines into a general framework
Expanding ACMG variant classification guidelines into a general framework
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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Background The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. However, these guidelines are fundamentally constrained in practice owing to their focus upon Mendeli...
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Expanding ACMG variant classification guidelines into a general framework
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TN_cdi_doaj_primary_oai_doaj_org_article_2eb0e4b3e2f04a0db191e0fc90b873c0
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2eb0e4b3e2f04a0db191e0fc90b873c0
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ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-022-00407-x
