Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.

Lee, Jessica J Y; Gottlieb, Michael M; Lever, Jake; Jones, Steven J M; Blau, Nenad; van Karnebeek, Clara D M; Wasserman, Wyeth W

Lee, Jessica J Y; Gottlieb, Michael M; Lever, Jake; Jones, Steven J M; Blau, Nenad; van Karnebeek, Clara D M; Wasserman, Wyeth W.

Afiliação

Lee JJY; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Room 3109, 950 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Gottlieb MM; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Room 3109, 950 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Lever J; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
Jones SJM; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
Blau N; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
van Karnebeek CDM; Dietmar-Hopp Metabolic Center, Department of General Pediatrics, University Hospital, Heidelberg, Germany.
Wasserman WW; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Room 3109, 950 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.

J Inherit Metab Dis ; 41(3): 555-562, 2018 05.

Article em En | MEDLINE | ID: mdl-29340838

Assuntos

Biomarcadores; Biologia Computacional/métodos; Bases de Dados Factuais; Erros Inatos do Metabolismo/diagnóstico; Fenótipo; Algoritmos; Biomarcadores/análise; Biomarcadores/metabolismo; Sistemas de Apoio a Decisões Clínicas; Diagnóstico Diferencial; Humanos; Erros Inatos do Metabolismo/genética; Erros Inatos do Metabolismo/metabolismo; Erros Inatos do Metabolismo/patologia; Reconhecimento Automatizado de Padrão/métodos

Palavras-chave

Biochemical phenotypes; Clinical informatics; Data mining; Inborn errors of metabolism; Metabolic phenotypes; Text-based phenomics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Biomarcadores / Bases de Dados Factuais / Biologia Computacional / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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