Article
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
JAMA - 12 Nov 2014
Lee Hane, Deignan Joshua L, Dorrani Naghmeh, Strom Samuel P, Kantarci Sibel, Quintero-Rivera Fabiola, Das Kingshuk, Toy Traci, Harry Bret, Yourshaw Michael, Fox Michelle, Fogel Brent L, Martinez-Agosto Julian A, Wong Derek A, Chang Vivian Y, Shieh Perry B, Palmer Christina G S, Dipple Katrina M, Grody Wayne W, Vilain Eric, Nelson Stanley F
Abstract excerpt
IMPORTANCE: Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders. OBJECTIVE: To report on initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types. DESIGN, SETTING, AND PARTICIPANTS: Clinical exome sequencing was performed on 814 consecutive patients with...
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