The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Dustin Baldridge Jennifer Heeley Marisa V AndrewsLinda ManwaringTomi L Toler Emily Fassi Elise FialaSarah BrownCharles W GossMarcia WillingDorothy K GrangeBeth A KozelMarwan Shinawi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)

Our results emphasize the usefulness of ES, demonstrate the significant role of the medical geneticist in the diagnostic process of patients undergoing ES, and illustrate the benefits of postanalytical diagnostic work-up in solving the "diagnostic odyssey." Genet Med advance online publication 02 March 2017.

Keyphrases

patients undergoing
healthcare
copy number
primary care
single cell
gene expression
health information