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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Martin, Antonio Rueda; Williams, Eleanor; Foulger, Rebecca E; Leigh, Sarah; Daugherty, Louise C; Niblock, Olivia; Leong, Ivone U S; Smith, Katherine R; Gerasimenko, Oleg; Haraldsdottir, Eik; Thomas, Ellen; Scott, Richard H; Baple, Emma; Tucci, Arianna; Brittain, Helen; de Burca, Anna; Ibañez, Kristina; Kasperaviciute, Dalia; Smedley, Damian; Caulfield, Mark; Rendon, Augusto; McDonagh, Ellen M.
Afiliação
  • Martin AR; Genomics England, London, UK.
  • Williams E; Genomics England, London, UK.
  • Foulger RE; Genomics England, London, UK.
  • Leigh S; Genomics England, London, UK.
  • Daugherty LC; Genomics England, London, UK.
  • Niblock O; Genomics England, London, UK.
  • Leong IUS; Genomics England, London, UK.
  • Smith KR; Genomics England, London, UK.
  • Gerasimenko O; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Haraldsdottir E; Genomics England, London, UK.
  • Thomas E; Genomics England, London, UK.
  • Scott RH; Genomics England, London, UK.
  • Baple E; Imperial College Healthcare NHS Trust, London, UK.
  • Tucci A; Genomics England, London, UK.
  • Brittain H; Genomics England, London, UK.
  • de Burca A; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Ibañez K; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK.
  • Kasperaviciute D; Genomics England, London, UK.
  • Smedley D; Genomics England, London, UK.
  • Caulfield M; Genomics England, London, UK.
  • Rendon A; Oxford Centre for Genomic Medicine, Oxford University Hospitals, Oxford, UK.
  • McDonagh EM; Genomics England, London, UK.
Nat Genet ; 51(11): 1560-1565, 2019 11.
Article em En | MEDLINE | ID: mdl-31676867
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Marcadores Genéticos / Testes Genéticos / Biologia Computacional / Doenças Raras / Crowdsourcing Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Marcadores Genéticos / Testes Genéticos / Biologia Computacional / Doenças Raras / Crowdsourcing Idioma: En Ano de publicação: 2019 Tipo de documento: Article