The DiscovEHR study, conducted by the Regeneron Genetics Center and the Geisinger Health System, uncovered many associations between genetic variants and clinical phenotypes.
An international team of researchers examined genetic and lifestyle factors linked to heart disease in some 55,600 people.
Using exome sequence and phenotyping data for individuals from longitudinal population studies, investigators began parsing pathogenic mutation effects in the genes.
"The idea is to open up a completely new market for bringing genetics into the lower-risk general population," Invitae CEO Randy Scott told GenomeWeb.
In PLOS this week: role for Notch signaling in congenital heart disease, sciatica risk variants, and more.
An analysis focused on large, rare de novo CNVs has identified copy number changes contributing to conotruncal heart disease in Chinese individuals.
The developer has presented clinical results that provide a base for completing development of a multi-protein test kit and conducting a clinical trial in advance of FDA submission.
Tapping data for hundreds of thousands of individuals, three teams uncovered overlaps between blood pressure and other metabolic and immune traits.
Researchers found distinct genetic differences in the two forms of CHD and discovered three new rare CHD disorders in children.
The European Commission recently awarded the researchers €1.5 million to probe the mechanics of heart failure using proteomic, genomic, and epidemiological approaches.
In PLOS this week: nasal microbial communities in asthma patients; sequencing-based way to detect, track schistosomiasis; and more.
The New York Times speaks with Vanderbilt's John Anthony Capra about Neanderthal genes in modern humans.
A draft guidance from the FDA suggests the agency wants to more tightly control gene-edited animals, according to Technology Review.
Researchers were among this weekend's protesters bemoaning the new US administration, Vox reports.