Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Author:

Sawyer S.L.1,Hartley T.1,Dyment D.A.1,Beaulieu C.L.1,Schwartzentruber J.2,Smith A.1,Bedford H.M.3,Bernard G.4,Bernier F.P.5,Brais B.6,Bulman D.E.1,Warman Chardon J.7,Chitayat D.89,Deladoëy J.10,Fernandez B.A.11,Frosk P.12,Geraghty M.T.1,Gerull B.13,Gibson W.14,Gow R.M.15,Graham G.E.1,Green J.S.11,Heon E.16,Horvath G.17,Innes A.M.5,Jabado N.18,Kim R.H.819,Koenekoop R.K.20,Khan A.5,Lehmann O.J.21,Mendoza‐Londono R.8,Michaud J.L.10,Nikkel S.M.1,Penney L.S.22,Polychronakos C.18,Richer J.1,Rouleau G.A.23,Samuels M.E.10,Siu V.M.24,Suchowersky O.25,Tarnopolsky M.A.26,Yoon G.8,Zahir F.R.14,Majewski J.18,Boycott K.M.1, ,

Affiliation:

1. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Canada

2. McGill University and Genome Quebec Innovation Centre Montreal Canada

3. Genetics Program North York General Hospital Toronto Canada

4. Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montréal Children's Hospital Research Institute of the McGill University Health Centre Montreal Canada

5. Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School of Medicine, University of Calgary Calgary Canada

6. Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery Montreal Neurological Institute, McGill University Montreal Canada

7. Department of Neurology The Ottawa Hospital Ottawa Canada

8. Division of Clinical and Metabolic Genetics The Hospital for Sick Children and University of Toronto Toronto Canada

9. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto Toronto Canada

10. Department of Medicine, Centre de Recherche du CHU Ste‐Justine University of Montreal Montreal Canada

11. Disciplines of Genetics and Medicine, Faculty of Medicine Memorial University of Newfoundland St. John's Canada

12. Departments of Pediatrics and Child Health University of Manitoba Winnipeg Canada

13. Cardiac Sciences and Medical Genetics University of Calgary Calgary Canada

14. Department of Medical Genetics University of British Columbia Vancouver Canada

15. Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Canada

16. Department of Ophthalmology and Vision Sciences, Program of Genetics and Genomic Biology The Hospital for Sick Children, University of Toronto Toronto Canada

17. Division of Biochemical Diseases, Department of Pediatrics University of British Columbia and BC Children's Hospital, Vancouver British Columbia Canada

18. Departments of Pediatrics and Human Genetics McGill University Montreal Canada

19. Department of Medicine University of Toronto Toronto Canada

20. McGill Ocular Genetics Laboratory McGill University Health Centre Montreal Canada

21. Departments of Ophthalmology and Medical Genetics University of Alberta Edmonton Canada

22. Medical Genetics IWK Health Centre Halifax Canada

23. Montreal Neurological Institute, Department of Neurology and Neurosurgery McGill University Montreal Canada

24. Division of Medical Genetics, Department of Pediatrics University of Western Ontario London Canada

25. Departments of Medicine, Medical Genetics, and Pediatrics University of Alberta Edmonton Canada

26. Department of Pediatrics McMaster University Hamilton Canada

Funder

Canadian Institutes of Health Research

Genome British Columbia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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