Lee and coauthors report on initial clinical indications for clinical exome sequencing referrals and molecular diagnostic rates for different indications and for different test types.
This observation trial reports that whole-exome sequencing provides a potential molecular diagnosis for patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations, contributing to disease.
This meta-analysis of genetic association studies summarizes associations between molecular targets of lipid-lowering therapy and risk of type 2 diabetes and coronary artery disease.
This case series of children with autism spectrum disorder compares the diagnostic yield of chromosomal microarray analysis vs whole-exome sequencing.
This case series describes the diagnostic yield of whole-exome sequencing (molecular autopsy) performed postmortem on patients younger than 45 years who died unexpectedly.