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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Quinodoz, Mathieu; Peter, Virginie G; Cisarova, Katarina; Royer-Bertrand, Beryl; Stenson, Peter D; Cooper, David N; Unger, Sheila; Superti-Furga, Andrea; Rivolta, Carlo.
  • Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.
  • Peter VG; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK; Institute of Experimental Pathology, Lausanne Univer
  • Cisarova K; Division of Genetic Medicine, University of Lausanne and Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
  • Royer-Bertrand B; Division of Genetic Medicine, University of Lausanne and Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
  • Stenson PD; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
  • Cooper DN; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
  • Unger S; Division of Genetic Medicine, University of Lausanne and Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, University of Lausanne and Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
  • Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK. Electronic address: carlo.rivolta@iob.ch.
Am J Hum Genet ; 109(3): 457-470, 2022 03 03.
Article en En | MEDLINE | ID: mdl-35120630
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma Humano / Mutación Missense Tipo de estudio: Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma Humano / Mutación Missense Tipo de estudio: Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article