Researchers used fine mapping and other approaches to prioritize proposed coding and non-coding causal variants at rheumatoid arthritis- and type 1 diabetes-linked loci.
A meta-analysis involving 16,595 women with leiomyoma and 523,330 without led to 16 associated loci related to both tumorigenesis and estrogen-related traits.
Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.
Genes and pathways related to mesenchymal biology, connective tissue, and conditions like obesity came to the forefront when researchers analyzed the new susceptibility loci.
Using data for more than 500,000 individuals, researchers found 15 fracture-linked loci and saw genetic interactions between fracture and bone mineral density.
With genotyping data for more than 100,000 endometrial cancer cases and controls, researchers found nine new risk loci before delving into genes and pathways involved.
Researchers integrated results from a pathogen-host association study with available clinical data to find variants influencing both infection responses and other disease risks.
Diet- and height-related variants were selected for in a Flores Island pygmy population, according to a study, which also provided insights into the population's history.
