genetic risk variants

Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.

After a successful pilot that recruited 1,000 patients, NorthShore will now engage 10,000 people to receive Color's genomic testing in their primary care.

Further analysis linked the new loci to genes implicated in immune-related tissues and cell types, as well as to lipid-related processes, suggesting their involvement in disease development

A new analysis found kidney disease-related pathogenic or likely pathogenic variants in exomes for roughly 9 percent of individuals with chronic kidney disease.

A GWAS meta-analysis involving 10,074 PCOS cases revealed three new and 11 known risk loci, along with a relatively consistent genetic architecture among cases.

Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.

Researchers have identified promising polygenic risk scores for estimating overall breast cancer risk as well as estrogen receptor-positive forms of disease.

This Week in Nature

In Nature this week: genomic analysis of the invasive fall webworm, amp of constrained coding regions within the human genome, and more.

Using data for almost 10,900 Latino individuals with diverse ancestry, investigators identified distinct patterns for risky or protective APOE variants.

Using data for nearly 45,000 epilepsy cases and controls, researchers identified loci contributing to focal epilepsy, genetic generalized epilepsy, or unclassified epilepsy.

Pages

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.