Johanne Marie Justesen

A loss-of-function variant in GFRAL associates with increased alcohol consumption in humans

The paper identifies a loss-of-function variant in GFRAL associated with increased alcohol consumption in humans and shows GDF15 reduces alcohol drinking in mice.

Genetics of cardiometabolic disease progression

The paper develops a method to identify genetic predictors of cardiometabolic disease progression using time-to-event data from the UK Biobank, finding ten polygenic hazard scores that significantly predict disease progression.

A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes

This study identifies novel causal genes for NAFLD using a combination of GWAS, genetic colocalization, and CRISPRi functional screens.

Integration of rare large-effect expression variants improves polygenic risk prediction

This study integrates rare large-effect expression variants into polygenic risk scores, showing improved prediction of complex traits by including these variants in risk assessment.

Significant Sparse Polygenic Risk Scores across 813 traits in UK Biobank

The paper develops sparse polygenic risk scores for 813 traits using UK Biobank data, showing significant predictive performance and a correlation between variant count and performance.

Survival Analysis on Rare Events Using Group-Regularized Multi-Response Cox Regression

The paper introduces a group-regularized Cox regression method for survival analysis of rare events using common responses, showing improved prediction performance on UK Biobank data.

Pervasive additive and non-additive effects within the HLA region contribute to disease risk in the UK Biobank

The paper analyzes HLA allele associations with 677 phenotypes in the UK Biobank, identifying 88 replicated and 90 novel associations, and uncovering non-additive and homozygous effects on disease risk.

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight novel adipocyte biology

The paper uses DeGAs to identify genetic components across 2,138 phenotypes in the UK Biobank, revealing novel adipocyte biology through variant and gene contributions to obesity-related traits.

Meta-analysis of exome array data identifies six novel genetic loci for lung function