In Nature this week: protein-coding variants associated with body-fat distribution, and more.
Researchers from the Genetics Investigation of Anthropometric Traits consortium tied loci in lipid homeostasis and other pathways to differences in waist-to-hip ratio.
One of the variants leads to increased phosphorylation of a signaling pathway as well as to increased cell proliferation, hinting at how it contributes to disease risk.
Exome sequences from thousands of Chinese individuals with or without esophageal squamous cell carcinoma led to six new germline risk variants.
The researchers found that most advanced EGFR-mutant lung cancer patients harbored changes in an average of two to three other oncogenes.
A pair of studies has uncovered additional loci and ancestry-specific variants that are associated with plasma lipid levels and coronary artery disease risk.
In PNAS this week: high-altitude adaptation signature among Tibetans, de novo mutations in early-onset high myopia, and more.
An exome-wide association study involving almost 2,800 individuals with dilated cardiomyopathy led to six new and two known susceptibility loci.
A meta-analysis of hundreds of thousands of individuals led to several dozen rare or low-frequency variants with relatively pronounced effects on height.
An exome-wide association study drew attention to a rare variant in TM2D3 that is more common among people of Icelandic heritage.
Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.