genetic risk variants
GWAS With Higher Genetic Diversity Lead to More Accurate Use of Polygenic Risk Scores
Increasing diversity in large studies results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction.
Variant Identified in Amish Population Appears to Protect From Cardiovascular Disease
A rare missense variant in the enzyme-coding gene B4GALT1 is linked to lower coronary artery disease risk and reduced blood LDL cholesterol levels.
Diabetes Subtypes Stem From Distinct Genetic Contributors, Study Suggests
Researchers described five diabetes clusters with specific clinical features that corresponded to different genetic contributors, genetic risk scores, and family history patterns.
SUPER Psychosis Study Presented at ASHG Digs Into Relationships of Rare Variants, Phenotypes
Using sequence data for tens of thousands of psychotic disease cases and controls, researchers have begun unearthing specific phenotypes linked to rare variants.
Germline Cancer Risk Genes May Hold Rhabdomyosarcoma Survival Clues, Study Suggests
Research presented at ASHG suggested that germline cancer susceptibility profiling may help to predict survival outcomes for a subset of rhabdomyosarcoma cases.