Molecular findings among patients referred for clinical whole-exome sequencing.

ABSTRACT:

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 as FBN1 mutations causing Marfan syndrome.

Design, setting, and patients

Observational study of 2000 consecutive patients with clinical whole-exome sequencing analyzed between June 2012 and August 2014. Whole-exome sequencing tests were performed at a clinical genetics laboratory in the United States. Results were reported by clinical molecular geneticists certified by the Amer

SUBMITTER: Yang Y 

PROVIDER: S-EPMC4326249 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature