المؤلفون: 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.; William Harvey Research Institute, Queen Mary University of London, London, UK., Gerasimenko O; Genomics England, London, UK., Haraldsdottir E; Genomics England, London, UK., Thomas E; Genomics England, London, UK.; Imperial College Healthcare NHS Trust, London, UK., Scott RH; Genomics England, London, UK., Baple E; Genomics England, London, UK.; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Tucci A; Genomics England, London, UK., Brittain H; Genomics England, London, UK., de Burca A; Genomics England, London, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals, Oxford, UK., Ibañez K; Genomics England, London, UK., Kasperaviciute D; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Smedley D; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Caulfield M; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Rendon A; Genomics England, London, UK.; Department of Haematology, University of Cambridge, Cambridge, UK., McDonagh EM; Genomics England, London, UK. ellen.mcdonagh@genomicsengland.co.uk.; William Harvey Research Institute, Queen Mary University of London, London, UK. ellen.mcdonagh@genomicsengland.co.uk.

المصدر: Nature genetics [Nat Genet] 2019 Nov; Vol. 51 (11), pp. 1560-1565.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Crowdsourcing* , Genetic Markers* , Software*, Computational Biology/*methods , Genetic Testing/*methods , Rare Diseases/*diagnosis , Rare Diseases/*genetics, Consensus ; England ; Expert Testimony ; High-Throughput Nucleotide Sequencing ; Humans