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.
The New York Times and ProPublica look into the close relationship between a startup and Memorial Sloan Kettering Cancer Center.
Yahoo News reports millions of dollars are being transferred from NIH, CDC, and other programs to pay for the housing of detained undocumented immigrant children.
In Science this week: in vitro generation of human reproductive cells, and more.
Researchers gave a handful of octopuses MDMA to find that they too act more social on the drug, Gizmodo reports.