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Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia
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Orientador(es)
Resumo(s)
Background: The successes of clinical genetics rely on accurate DNA variant interpretation
for the purpose of informing diagnosis and treatment; However, this practice is often rudimentary and differs among diagnostic
laboratories, leading to inconsistencies in pathogenicity classification: In response, the Clinical Genome (ClinGen) Resource consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice.
Descrição
Palavras-chave
Familial Hypercholesterolaemia Doenças Cardio e Cérebro-vasculares