Kaido Lepik

This study identifies widespread stabilizing selection on metabolite levels in humans, with implications for cardiometabolic health and evolutionary conservation.

This study identifies genetic determinants of plasma protein levels in the Estonian population, including common, rare, and copy number variants, and provides fine-mapped credible sets for 151 proteins.

This study investigates the phenotypic effects of 22q11.2 copy number variants in the general population using UK Biobank data, finding associations with BMI, platelet volume, and other traits.

The paper quantifies mediation between DNA methylation, transcriptome, and proteome layers and their impact on complex traits using multivariable Mendelian randomization.

The paper introduces an omics-informed quality score to improve CNV detection and association analysis by reducing false positives and increasing statistical power.

This paper introduces revTWMR, a method to determine causal relationships between gene expression and complex traits, finding that traits more strongly influence gene expression than vice versa.

The paper investigates sex-specific cis-eQTLs in whole blood RNA-seq data and finds they do not systematically translate into detectable sex-specific trait associations due to limited power and compensatory effects.

The paper identifies ASPHD1 as a key driver of reproductive traits in the 16p11.2 locus using biobank data, Mendelian randomization, and animal models.

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.