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.
A rare autosomal variant and common X-linked variant study produced new associations between first-menstruation timing and rare autosomal variants.
A missense change in CDKN2A turned up through a genome-wide association study involving thousands of childhood acute lymphoblastic leukemia cases and controls.
An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.
In Science this week: reduction in bee phylogenetic diversity, and more.
The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.
The Economist reports on Synthorx's efforts to use expanded DNA bases they generated to develop a new cancer drug.