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 study uses gene frequencies from an expanded carrier screening program of reproductive-aged adults of multiple racial backgrounds and ethnicities to estimate the rates of children identified as being at risk for severe genetic disease.
This Medical News & Perspectives article discusses advances in gene editing and the ethical and societal considerations raised by clinical application of these technologies.
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.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.
Florez and colleagues performed whole-exome sequencing on DNA samples from 3756 individuals of Mexican and US Latino ancestry (1794 with type 2 diabetes, 1962 controls) and identified a single low-frequency variant (pE508K) in HNF1A—the Maturity Onset Diabetes of the Young type 3 gene—associated with type 2 diabetes in this population.
Kris and coauthors determine the frequency of oncogenic drivers in patients with lung adenocarcinomas and use the data to select treatments targeting the identified driver(s) and measure survival among 1007 US patients with metastatic lung adenocarcinomas.
Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.