Hae Kyung Im

Keywords transcriptome prediction models transcriptome-wide association study functional annotation multi-ancestry peripheral blood mononuclear cells PBMCs RNA-seq omnibus approach Introduction Although large-scale genome-wide association studies (GWASs) have identified numerous genetic variants associated with complex human diseases or traits, the inference from identified genetic variants to candidate genes remains challenging.

Keywords transcriptome-wide association studies TWASs type I error inflation polygenicity heritability variance control Introduction To explain the mechanisms behind the hundreds of thousands of loci discovered via genome-wide association studies (GWASs), researchers have studied the role of molecular traits as mediators.

Gene implication methods (GIMs) are crucial tools for analyzing genome-wide association studies, but are often ambiguous. We present the LocusCompare2 platform to incorporate six popular GIMs and hundreds of quantitative trait loci datasets, enabling validation across several GIMs and window settings to improve accuracy and reproducibility. You have full access to this article via your institution.