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Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis, Joanna; Samocha, Kaitlin E; Wiel, Laurens; Zhang, Zhancheng; Arvai, Kevin J; Eberhardt, Ruth Y; Gallone, Giuseppe; Lelieveld, Stefan H; Martin, Hilary C; McRae, Jeremy F; Short, Patrick J; Torene, Rebecca I; de Boer, Elke; Danecek, Petr; Gardner, Eugene J; Huang, Ni; Lord, Jenny; Martincorena, Iñigo; Pfundt, Rolph; Reijnders, Margot R F; Yeung, Alison; Yntema, Helger G; Vissers, Lisenka E L M; Juusola, Jane; Wright, Caroline F; Brunner, Han G; Firth, Helen V; FitzPatrick, David R; Barrett, Jeffrey C; Hurles, Matthew E; Gilissen, Christian; Retterer, Kyle.
Afiliação
  • Kaplanis J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Samocha KE; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Wiel L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Zhang Z; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Arvai KJ; GeneDx, Gaithersburg, MD, USA.
  • Eberhardt RY; GeneDx, Gaithersburg, MD, USA.
  • Gallone G; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Lelieveld SH; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Martin HC; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • McRae JF; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Short PJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Torene RI; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • de Boer E; GeneDx, Gaithersburg, MD, USA.
  • Danecek P; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gardner EJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Huang N; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Lord J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Martincorena I; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Pfundt R; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Reijnders MRF; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Yeung A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yntema HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Vissers LELM; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
  • Juusola J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Wright CF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Firth HV; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • FitzPatrick DR; GeneDx, Gaithersburg, MD, USA.
  • Barrett JC; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, UK.
  • Hurles ME; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Retterer K; GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Nature ; 586(7831): 757-762, 2020 10.
Article em En | MEDLINE | ID: mdl-33057194
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Deficiências do Desenvolvimento / Bases de Dados Genéticas / Atenção à Saúde / Conjuntos de Dados como Assunto / Análise de Dados / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Deficiências do Desenvolvimento / Bases de Dados Genéticas / Atenção à Saúde / Conjuntos de Dados como Assunto / Análise de Dados / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido