Article

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

2021-01-31

Abstract excerpt

<h4>Purpose</h4> The ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specific ACMG/AMP) guidelines, the ClinGen Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in resolving conflicting variant interpretations. <h4>Me...

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Literature Corpus work: 001d6abc-81f1-5f04-8465-412a7c40d96d
DOI: 10.1101/2021.01.27.21250652

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