Bernhard Paulweber

Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex Lipoprotein(a) KIV-2 VNTR

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

G-quadruplex formation in GCK and TM6SF2 are targets for differential DNA methylation in metabolic disease and hepatocellular carcinoma patients

The paper investigates DNA methylation changes in GCK and TM6SF2 regions associated with metabolic diseases and hepatocellular carcinoma, revealing their impact on G-quadruplex formation and gene regulation.

Allergy-induced systemic inflammation impairs tendon quality

This study investigates how allergy-induced systemic inflammation affects tendon quality and finds that it reduces tendon elasticity and alters matrix composition, with supporting epidemiological evidence linking allergies to increased tendinopathy risk.

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter

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.

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

This study identifies 16 genome-wide significant loci associated with diabetic kidney disease, including a protective variant in the COL4A3 gene.