Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/4871
Título: Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia
Autor: Iacocca, Michael A.
Chora, Joana
Rivera, E. Andy
DiStefano, Marina T.
Carrie, Alain
Sijbrands, Eric J.
Defesche, Joep
Freiberger, Tomas
Knowles, Joshua W.
Hegele, Robert A.
Bourbon, Mafalda
Palavras-chave: Familial Hypercholesterolemia
Cardiovascular Disease
Doenças Cardio e Cérebro-vasculares
Data: Jun-2017
Resumo: Background: - The successes of clinical genetics rely on accurate 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 Resources (ClinGen) consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice. Familial Hypercholesterolemia (FH) Working Group: - FH is a prevalent monogenic disorder, affecting ~1/250 individuals; - It is characterized by extreme LDL cholesterol levels and premature atherosclerosis causing cardiovascular disease; - Genetic testing is increasingly offered worldwide as a central part of diagnosis.
Descrição: Curating the Clinical Genome Meeting 2017, 28-30 June 2017
URI: http://hdl.handle.net/10400.18/4871
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

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