Karoline B. Kuchenbaecker

This study examines ancestry-related differences in variant prioritisation and diagnostic outcomes in the UK 100,000 Genomes Project, finding disparities in positive predictive value and variant of uncertain significance frequencies across groups.

The paper performs a transcriptome-wide association study on human lifespan and validates findings in Drosophila, identifying COASY as a gene involved in ageing across species.

This study examines polygenic scores for schizophrenia and major depression in Chinese adults, finding associations with various traits and highlighting ancestry-specific genetic correlations.

This paper identifies and prioritizes drug targets for major depressive disorder using genetic methods, finding that 82% of approved depression/anxiety drugs have significant genetic targets.

The paper evaluates the accuracy of polygenic risk scores for MDD in African ancestry UK Biobank participants using European and African GWAS data, finding lower predictive power from European-derived PRS.

This paper identifies genetic loci associated with short and long sleep duration through a cross-population meta-analysis and explores their genetic correlations and causal relationships with depression.

This study assesses the transferability of genetic loci and polygenic scores for cardiometabolic traits from European-ancestry samples to British Pakistanis and Bangladeshis, finding high transferability for most loci but variable performance for polygenic scores.

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

This paper constructs a type 2 diabetes polygenic risk score for British Pakistanis and Bangladeshis, integrates it with a clinical tool to improve risk prediction, and identifies genetic differences between disease subgroups.

This study assesses the transferability of lipid loci across African, Asian, and European populations, finding high consistency but also population-specific variations.

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

This study evaluates very low depth whole genome sequencing for complex trait association studies, showing it can efficiently discover association signals comparable to imputed GWAS chip designs.

The paper performs deep whole genome sequencing on 1,457 individuals to investigate rare variant contributions to cardiometabolic traits, identifying new regulatory variants and gene-trait associations.