Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

ABSTRACT:

Background

Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders.

Methods

To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA. These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, developmental delay, epile

SUBMITTER: Prasad A 

PROVIDER: S-EPMC5859484 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature