exome arrays

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.

This Week in PNAS

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.

Researchers identified low-frequency lung cancer risk variants through a three-stage association involving nearly 13,000 Chinese individuals.

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What happens to scientific papers when certain journals are no longer published? Some scientists are trying to make sure they don't disappear forever.

A study in Microbiome finds that heavy drinkers have an unhealthy mix of bacteria in their mouths.

Doctors and patients are still trying to figure out what role at-home genetic testing should play in healthcare, Newsweek says.

In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more.