Semiparametric efficient estimation of small genetic effects in large-scale population cohorts.

ABSTRACT: Population genetics seeks to quantify DNA variant associations with traits or diseases, as well as interactions among variants and with environmental factors. Computing millions of estimates in large cohorts in which small effect sizes and tight confidence intervals are expected, necessitates minimizing model-misspecification bias to increase power and control false discoveries. We present TarGene, a unified statistical workflow for the semi-parametric efficient and double robust estimation of genetic effects including $ k $-point interactions among categorical variables in the presence of confounding and weak population dependence. $ k $-point interactions, or Average Interaction Effects (AIEs), are a direct generalization of the usual average treatment effect (ATE). We estimate genetic e

SUBMITTER: Labayle O 

PROVIDER: S-EPMC12479317 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature