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PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Buske, Orion J; Girdea, Marta; Dumitriu, Sergiu; Gallinger, Bailey; Hartley, Taila; Trang, Heather; Misyura, Andriy; Friedman, Tal; Beaulieu, Chandree; Bone, William P; Links, Amanda E; Washington, Nicole L; Haendel, Melissa A; Robinson, Peter N; Boerkoel, Cornelius F; Adams, David; Gahl, William A; Boycott, Kym M; Brudno, Michael.
Afiliação
  • Buske OJ; Department of Computer Science, University of Toronto, Toronto, Canada.
  • Girdea M; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
  • Dumitriu S; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Gallinger B; Department of Computer Science, University of Toronto, Toronto, Canada.
  • Hartley T; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
  • Trang H; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Misyura A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Friedman T; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Beaulieu C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bone WP; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Links AE; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Washington NL; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Haendel MA; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Robinson PN; Department of Computer Science, University of Toronto, Toronto, Canada.
  • Boerkoel CF; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Adams D; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Gahl WA; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Boycott KM; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California.
  • Brudno M; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.
Hum Mutat ; 36(10): 931-40, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26251998
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Raras / Disseminação de Informação Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Raras / Disseminação de Informação Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article