Emil Uffelmann

From Nagelkerke's R2 to Liability-Scale Variance Explained for Polygenic Scores

This paper provides a new method to directly transform logistic regression results to liability-scale variance explained for polygenic scores, validated by simulation.

Genomic analyses reveal new insights into Alzheimer's disease

This study identifies 118 new genetic loci associated with Alzheimer's disease across diverse ancestries and discovers 48 novel risk loci, including those enriched in neuronal cell types.

Estimating Disorder Probability Based on Polygenic Prediction Using the BPC Approach

The paper introduces the BPC approach to improve polygenic score calibration for binary disorders, achieving better calibration than existing methods in simulated and empirical data.

Local Genetic Sex Differences in Quantitative Traits

The paper identifies local genetic sex differences in quantitative traits using UK Biobank data, showing that sex-dimorphic effects are common and that the scale of genetic effects impacts heritability interpretations.

Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates

This paper shows that using the same genetic variants to create a polygenic risk score (PRS) and then to perform a GWAS on the PRS-derived phenotype leads to inflated false positive rates.

Drug Gene-Set Analysis Identifies Established and Emerging Therapeutic Mechanisms

DRUGSETS identifies therapeutic mechanisms by analyzing GWAS associations with drug and mechanism-of-action gene sets, revealing both established and novel targets across CNS and non-CNS phenotypes.

Uncovering the Genetic Architecture of Broad Antisocial Behavior through a Genome-Wide Association Study Meta-analysis.

This study identifies genetic variants associated with antisocial behavior through a genome-wide association meta-analysis, finding significant links to FOXP2 and correlations with multiple health and behavioral traits.