Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.

Fortuno, Cristina; James, Paul A; Young, Erin L; Feng, Bing; Olivier, Magali; Pesaran, Tina; Tavtigian, Sean V; Spurdle, Amanda B

Fortuno, Cristina; James, Paul A; Young, Erin L; Feng, Bing; Olivier, Magali; Pesaran, Tina; Tavtigian, Sean V; Spurdle, Amanda B.

Afiliação

Fortuno C; QIMR Berghofer Medical Research Institute, Genetics and Computational Division, Herston, Queensland, Australia.
James PA; Parkville Familial Cancer Centre, Parkville, Melbourne, Victoria, Australia.
Young EL; Peter MacCallum Cancer Centre, Parkville, Melbourne, Victoria, Australia.
Feng B; Royal Melbourne Hospital, Parkville, Melbourne, Victoria, Australia.
Olivier M; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
Pesaran T; Department of Dermatology and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
Tavtigian SV; Molecular Mechanisms and Biomarkers Group, International Agency for Research on Cancer, Lyon, France.
Spurdle AB; Ambry Genetics, Aliso Viejo, California.

Hum Mutat ; 39(8): 1061-1069, 2018 08.

Article em En | MEDLINE | ID: mdl-29775997

Assuntos

Biologia Computacional/métodos; Mutação de Sentido Incorreto/genética; Proteína Supressora de Tumor p53/genética; Humanos; Software

Palavras-chave

ACMG; TP53; bioinformatics; classification; variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Supressora de Tumor p53 / Biologia Computacional / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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