Close Menu

genetic risk variants

Two new studies of people with autism spectrum disorder indicate that mosaic mutations and copy number variants contribute to a person's risk for the condition.

The Helix Laboratory Platform is the first whole-exome sequencing platform to receive do novo authorization by the agency and paves the way for others.

A multi-ancestry genome-wide association study meta-analysis uncovered 86 genetic loci associated with prostate cancer risk that researchers bundled into a genetic risk score.

The researchers also examined the contribution of rare variants to inflammatory bowel disease to find a potential targetable pathway.

The findings indicate that rare genetic variants in cardiomyopathy-related genes may also contribute to more common forms of heart failure. 

In a genome-wide association study of Takayasu arteritis, researchers uncovered disease-linked loci both within and beyond the HLA region.

Researchers uncovered genetic loci that may influence why childhood cancer survivors of African ancestry are more likely to develop therapy-linked cardiomyopathy.

Exome array-wide association and rare variant-focused genome-wide association meta-analyses led to 87 rare variants with ties to one or more blood pressure traits.

Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype.

The INTERCEPT study showed the potential of broader genetic testing to personalize treatment approaches for cancer patients.


President-elect Joe Biden has nominated Eric Lander to serve as director of the Office of Science and Technology Policy, the Associated Press says.

Nature News writes that scientists are trying to figure out how to name the new strains of SARS-CoV-2 that are emerging.

The New York Times reports that researchers are studying identical twins who had COVID-19 to understand the influence of genetics on disease severity.

In PNAS this week: epistasis affecting cystic fibrosis, Tiger rattlesnake genome gives venom insight, and more.