Molecular findings among patients referred for clinical whole-exome sequencing

Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding… - Jama, 2014 - jamanetwork.com
Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome
sequencing and report (1) the rate of molecular diagnosis among phenotypic groups,(2) the
spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically
actionable incidental findings such asFBN1mutations causing Marfan syndrome. Design,
Setting, and Patients Observational study of 2000 consecutive patients with clinical whole …