Article
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Clinical genetics - 1 Mar 2016
Sawyer S L, Hartley T, Dyment D A, Beaulieu C L, Schwartzentruber J, Smith A, Bedford H M, Bernard G, Bernier F P, Brais B, Bulman D E, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez B A, Frosk P, Geraghty M T, Gerull B, Gibson W, Gow R M, Graham G E, Green J S, Heon E, Horvath G, Innes A M, Jabado N, Kim R H, Koenekoop R K, Khan A, Lehmann O J, Mendoza-Londono R, Michaud J L, Nikkel S M, Penney L S, Polychronakos C, Richer J, Rouleau G A, Samuels M E, Siu V M, Suchowersky O, Tarnopolsky M A, Yoon G, Zahir F R, Majewski J, Boycott K M
Abstract excerpt
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...
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