Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.

Tavtigian, Sean V; Harrison, Steven M; Boucher, Kenneth M; Biesecker, Leslie G

Tavtigian, Sean V; Harrison, Steven M; Boucher, Kenneth M; Biesecker, Leslie G.

Afiliação

Tavtigian SV; Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, Utah.
Harrison SM; Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.
Boucher KM; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Biesecker LG; Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.

Hum Mutat ; 41(10): 1734-1737, 2020 10.

Article em En | MEDLINE | ID: mdl-32720330

Assuntos

Variação Genética; Genoma Humano; Humanos; Teorema de Bayes; Testes Genéticos; Estados Unidos

Palavras-chave

ACMG; Bayesian framework; VUS; medical genetics; points-based classification system; scoring metric; unclassified variants; variant classification; variants of uncertain significance

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Genoma Humano Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research Limite: Humans País/Região como assunto: America do norte Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article

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