Article
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
Patel Mayher J, DiStefano Marina T, Oza Andrea M, Hughes Madeline Y, Wilcox Emma H, Hemphill Sarah E, Cushman Brandon J, Grant Andrew R, Siegert Rebecca K, Shen Jun, Chapin Alex, Boczek Nicole J, Schimmenti Lisa A, Nara Kiyomitsu, Kenna Margaret, Azaiez Hela, Booth Kevin T, Avraham Karen B, Kremer Hannie, Griffith Andrew J, Rehm Heidi L, Amr Sami S, Tayoun Ahmad N Abou
Abstract excerpt
PURPOSE: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation. METHODS: A total of 157 variants across...
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