Clinical exome sequencing for genetic identification of rare Mendelian disorders.

ABSTRACT:

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 and August 2014. Clinical exome sequencing was conducted as trio-CES (both parents and their affected child sequenced simultaneously) to effectively detect de novo and compound heterozygous variants or as proband-CES (only the affected i

SUBMITTER: Lee H 

PROVIDER: S-EPMC4278636 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature