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Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
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.
Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.
A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.
In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.
According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.