Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde, K Joeri; Kuiper, Joël; Thompson, Bryony A; Plazzer, John-Paul; van Valkenhoef, Gert; de Haan, Mark; Jongbloed, Jan D H; Wijmenga, Cisca; de Koning, Tom J; Abbott, Kristin M; Sinke, Richard; Spurdle, Amanda B; Macrae, Finlay; Genuardi, Maurizio; Sijmons, Rolf H; Swertz, Morris A

van der Velde, K Joeri; Kuiper, Joël; Thompson, Bryony A; Plazzer, John-Paul; van Valkenhoef, Gert; de Haan, Mark; Jongbloed, Jan D H; Wijmenga, Cisca; de Koning, Tom J; Abbott, Kristin M; Sinke, Richard; Spurdle, Amanda B; Macrae, Finlay; Genuardi, Maurizio; Sijmons, Rolf H; Swertz, Morris A.

Afiliação

van der Velde KJ; Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Kuiper J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Thompson BA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Plazzer JP; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
van Valkenhoef G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
de Haan M; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Melbourne, Australia.
Jongbloed JD; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Wijmenga C; Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
de Koning TJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Abbott KM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Sinke R; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Spurdle AB; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Macrae F; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Genuardi M; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Sijmons RH; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Swertz MA; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Melbourne, Australia.

Hum Mutat ; 36(7): 712-9, 2015 Jul.

Article em En | MEDLINE | ID: mdl-25871441

Assuntos

Biologia Computacional; Reparo de Erro de Pareamento de DNA; Variação Genética; Modelos Moleculares; Neoplasias Colorretais Hereditárias sem Polipose/genética; Estudos de Associação Genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Software

Palavras-chave

Lynch syndrome; cumulative link model; pathogenicity prediction; variant classification

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Modelos Moleculares / Biologia Computacional / Reparo de Erro de Pareamento de DNA Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda

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