Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.

Mahmood, Khalid; Jung, Chol-Hee; Philip, Gayle; Georgeson, Peter; Chung, Jessica; Pope, Bernard J; Park, Daniel J

Mahmood, Khalid; Jung, Chol-Hee; Philip, Gayle; Georgeson, Peter; Chung, Jessica; Pope, Bernard J; Park, Daniel J.

Afiliação

Mahmood K; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
Jung CH; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
Philip G; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
Georgeson P; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
Chung J; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
Pope BJ; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
Park DJ; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia. djp@unimelb.edu.au.

Hum Genomics ; 11(1): 10, 2017 05 16.

Article em En | MEDLINE | ID: mdl-28511696

Assuntos

Algoritmos; Mutação; Software; Bases de Dados Genéticas; Conjuntos de Dados como Assunto; Genes BRCA1; Genes p53; Humanos

Palavras-chave

Benchmarking; Functional assays; Functional datasets; Genomic screening; Mutation assessment; Pathogenicity prediction; Protein function; Variant effect prediction

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Software / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Genomics Assunto da revista: GENETICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google