Nico Lakenberg

Rare longevity-associated variants, including a reduced-function mutation in cGAS, identified in multigenerational long-lived families

The paper identifies rare longevity-associated variants, including a cGAS mutation, in long-lived families and shows they reduce inflammation and delay cellular senescence.

Phenotype prediction using biologically interpretable neural networks on multi-cohort multi-omics data

The paper develops interpretable neural networks for multi-omics data to predict smoking status, age, and LDL levels, showing improved performance and generalizability across cohorts.

Functional characterisation of rare variants in genes encoding the MAPK/ERK signalling pathway identified in long-lived Leiden Longevity Study participants

The paper identifies two rare variants in the MAPK/ERK pathway from long-lived families and shows they affect signaling and metabolism differently in mouse embryonic stem cells.

Allelic expression imbalance in articular cartilage and subchondral bone refined genome-wide association signals in osteoarthritis.

The paper identifies transcript SNPs with allelic expression imbalance in OA risk loci from articular cartilage and subchondral bone, revealing new potential OA risk genes.

RNA sequencing reveals interacting key determinants of osteoarthritis acting in subchondral bone and articular cartilage.

The paper identifies differentially expressed genes in OA subchondral bone and cartilage using RNA sequencing, highlighting IL11 and CHADL as potential druggable targets.

Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference

The paper identifies 818 genes influencing DNA methylation in blood using genetic anchors and causal inference, revealing both transcription factors and non-DNA-binding proteins with regulatory roles.

Elucidating another level of epigenetic regulation in osteoarthritis by identifying functional cis-acting long non-coding RNAs and their targets in articular cartilage

The paper identifies differentially expressed lncRNAs in OA cartilage and validates their regulatory role on adjacent genes.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

Genome-wide identification of directed gene networks using large-scale population genomics data

The paper identifies 49 gene drivers of downstream transcriptional changes using population genomics data and RNA-sequencing from 3,072 individuals.

Disease variants alter transcription factor levels and methylation of their binding sites

The paper identifies trans-meQTLs linking disease variants to methylation changes at transcription factor binding sites, revealing eight-fold more downstream effects than trans-eQTLs.