Florian Kronenberg

This study performs GWAS on the human urine proteome, identifying genetic associations with 20 proteins and linking them to disease risk and gene expression.

This paper demonstrates that UMI-ONT-Seq accurately detects SNPs and quantifies VNTR copy numbers in the complex KIV-2 region across multiple ancestries.

The paper presents a Nextflow pipeline for scalable and reproducible GWAS analysis on large biobank datasets, validated against published datasets and tested on HPC and cloud infrastructures.

The paper assesses if a polygenic score for reduced kidney function predicts adverse outcomes in chronic kidney disease patients, finding significant associations but no improvement in prediction over existing risk equations.

Haplocheck detects contamination in mitochondrial and whole-genome sequencing studies using mitochondrial phylogeny, showing high concordance with nuclear DNA results.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

The paper identifies a DNA methylation site in the LPA promoter associated with Lp(a) levels and shows that a SNP at this site influences Lp(a) through direct genetic effect, not methylation.

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.