Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

ABSTRACT:

Background

Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders.

Methods

We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients.

Results

We present data on the first 250 probands for whom referring physicians ordered whole-exome sequencing. Patients presented with a range of phenotypes suggesting potential genetic causes. Approximately 80% were children with neurologic phenotypes. Insurance coverage was similar to that for established genetic tests. We identified 86 mutated alleles that were highly likely to be causative in 62 of t

SUBMITTER: Yang Y 

PROVIDER: S-EPMC4211433 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature