Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia

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 respo...

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Detalhes bibliográficos
Autor principal: Iacocca, Michael A. (author)
Outros Autores: Chora, Joana R. (author), Freiberger, Tomas (author), Carrie, Alain (author), Leigh, Sarah E. (author), Kurtz, C. Lisa (author), Tichy, Lukas (author), DiStefano, Marina T. (author), Wand, Hannah (author), Defesche, Joep (author), Sijbrands, Eric J. (author), Hegele, Robert A (author), Knowles, Joshua W. (author), Bourbon, Mafalda (author), On behalf of the ClinGen FH Variant Curation Expert Panel (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2019
Assuntos:
Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/5875
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5875

Texto Completo

http://hdl.handle.net/10400.18/5875

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