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The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Ediae, Grace Uwaila; Lemire, Gabrielle; Chisholm, Caitlin; Hartley, Taila; Eaton, Alison; Osmond, Matthew; Rojas, Samantha K; Huang, Lijia; Gillespie, Meredith; Sawyer, Sarah L; Boycott, Kym M.
Affiliation
  • Ediae GU; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Lemire G; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.
  • Chisholm C; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Hartley T; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.
  • Eaton A; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.
  • Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Huang L; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.
  • Gillespie M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Sawyer SL; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.
  • Boycott KM; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.
Am J Med Genet A ; 191(2): 338-347, 2023 02.
Article in En | MEDLINE | ID: mdl-36331261

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genomics / Rare Diseases Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Humans Country/Region as subject: America do norte Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genomics / Rare Diseases Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Humans Country/Region as subject: America do norte Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: