Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Author:

Hartley TailaORCID,Marshall Deborah,Acker Meryl,Fooks Katharine,Gillespie Meredith K.,Price E. Magda,Graham Ian D.,White-Brown Alexandre,MacKay Layla,Macdonald Stella K.,Brady Lauren,Hui Angela Y.,Andrews Joseph D.,Chowdhury Ashfia,Wall Erika,Soubry Élisabeth,Ediae Grace U.,Rojas Samantha,Assamad Daniel,Dyment David,Tarnopolsky Mark,Sawyer Sarah L.,Chisholm Caitlin,Lemire Gabrielle,Amburgey Kimberly,Lazier Joanna,Mendoza-Londono Roberto,Dowling James J.,Balci Tugce B.,Armour Christine M.,Bhola Priya T.,Costain Gregory,Dupuis Lucie,Carter Melissa,Badalato Lauren,Richer Julie,Boswell-Patterson Christie,Kannu Peter,Cordeiro Dawn,Warman-Chardon Jodi,Graham Gail,Siu Victoria Mok,Cytrynbaum Cheryl,Rusnak Alison,Aul Ritu B.,Yoon Grace,Gonorazky Hernan,McNiven Vanda,Mercimek-Andrews Saadet,Guerin Andrea,Deshwar Ashish R.,Marwaha Ashish,Weksberg Rosanna,Karp Natalya,Campbell Maggie,Al-Qattan Sarah,Shuen Andrew Y.,Inbar-Feigenberg Michal,Cohn Ronald,Szuto Anna,Inglese Cara,Poirier Myriam,Chad Lauren,Potter Beth,Boycott Kym M.,Hayeems Robin,Boycott Kym,Brudno Michael,Bernier Francois,van Karnebeek Clara,Dyment David,Kernohan Kristin,Innes Micheil,Lamont Ryan,Parboosingh Jillian,Marshall Deborah,Marshall Christian,Mendoza Roberto,Dowling James,Hayeems Robin,Knoppers Bartha,Lehman Anna,Mostafavi Sara

Publisher

Elsevier BV

Subject

Genetics (clinical)

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