genetic risk variants
Polygenic Risk Prediction Improves With Functional Annotation Data
Researchers developed a framework known as OmniPRS to boost PRS prediction accuracy by incorporating functional annotation data in simulated and real datasets.
Osteoarthritis Risk Genes, Treatment Targets Unearthed in GWAS Meta-Analysis
Researchers identified 962 osteoarthritis risk variants and potentially targetable effector genes using genetic data for 489,975 cases and nearly 1.5 million unaffected controls.
Heart Failure Genetic Study Highlights Interplay Between Common, Rare Risk Variants
Along with rare disease variants found in exome or genome sequence data, researchers identified common variants that combine to influence heart failure risk.
'Viking Genes' Study Uncovers Actionable Variants in Scottish Island Founder Populations
Researchers found and returned actionable clinical variant findings to dozens of study participants descended from Orkney and Shetland founder populations.
Integrated Molecular Analyses Point to Expression, Splicing Effects of Disease-Associated Variants
Using gene expression, protein, metabolite, and lipid data from 4,732 INTERVAL study participants, researchers identified gene regulatory features linked to disease-related variants.