Clinical exome sequencing for genetic identification of rare Mendelian disorders
H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci… - Jama, 2014 - jamanetwork.com
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 undiagnosed, suspected genetic conditions at
the University of California, Los Angeles, Clinical Genomics Center between January 2012 …
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 undiagnosed, suspected genetic conditions at
the University of California, Los Angeles, Clinical Genomics Center between January 2012 …
