Journal article
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
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 the diagnostic process WES is used. The Finding Of Rare Disease GEnes (FORGE) Canada project was a nation-wide effort to identify mutations for …
Authors
Sawyer SL; Hartley T; Dyment DA; Beaulieu CL; Schwartzentruber J; Smith A; Bedford HM; Bernard G; Bernier FP; Brais B
Journal
Clinical Genetics, Vol. 89, No. 3, pp. 275–284
Publisher
Wiley
Publication Date
March 2016
DOI
10.1111/cge.12654
ISSN
0009-9163