Genetic Associations and Epidemiology

Genetic associations and epidemiology investigates how variations in DNA sequence—from single nucleotide changes to broader haplotype patterns—relate to differences in disease risk, traits, and biological function across populations. By combining large-scale genome-wide association studies with tools like Mendelian randomization and polygenic risk scores, researchers can move beyond identifying statistical correlations to asking whether a genetic variant actually causes a health outcome, rather than merely traveling alongside one. A central challenge is untangling the contributions of thousands of small-effect variants that collectively shape complex diseases like diabetes or schizophrenia, where no single gene tells the full story. Active work focuses on improving the predictive accuracy of polygenic scores across diverse ancestral populations and on linking genetic signals to the precise molecular mechanisms—such as altered gene expression—that connect a variant to its observable effect.

Works

95,450

Total citations

2,480,298

Keywords

Genome-wide AssociationGenetic VariationHaplotype MappingPopulation GeneticsMendelian RandomizationPolygenic Risk Scores