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

L. Sawyer, Sarah; Hartley, Taila; A. Dyment, David; L. Beaulieu, Chandree; Schwartzentruber, Jeremy; Smith, Amanda; Melanie Bedford, H.; Bernard, Geneviève; P. Bernier, François; Brais, Bernard; E. Bulman, Dennis; Warman‐Chardon, Jodi; Chitayat, David; Deladoëy, Johnny; A. Fernandez, Bridget; Frosk, Patrick; T. Geraghty, Michael; Gerull, Brenda; T. Gibson, William; M. Gow, Robert; E. Graham, Gail; S. Green, Jane; Héon, Elise; Horváth, Gabriella; Micheil Innes, A.; Jabado, Nada; H. Kim, Raymond; K. Koenekoop, R.; Khan, Aneal; J. Lehmann, Ordan; Mendoza‐Londono, Roberto; L. Michaud, Jacques; M. Nikkel, Sarah; S. Penney, Lynette; Polychronakos, Constantin; Richer, Julie; A. Rouleau, Guy; E. Samuels, Mark; Mok Siu, Victoria; Suchowersky, Oksana; A. Tarnopolsky, Mark; Yoon, Grace; Zahir, Farah; Majewski, Jacek; M. Boycott, Kym

doi:10.1111/cge.12654

Public

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

Published in Clinical Genetics • Aug 18, 2015

Authors:

Sarah L. Sawyer

Taila Hartley

David A. Dyment

Abstract

An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis of disease for 25-40% of patients. The diagnostic rate is probably influenced by when in...

Subject

Exome sequencing

Exome

Genetics

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