Jan Herman Veldink

The paper analyzes Dutch population structure using genome-wide data, identifying haplotypic clusters and showing that fine-grained haplotypic covariates reduce GWAS confounding.

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.

ExpansionHunter Denovo detects known and novel repeat expansions in short-read sequencing data without requiring predefined repeat catalogs.

This study identifies dysregulation of coding, long non-coding, circular RNA, and alternative splicing in bipolar disorder using postmortem brain tissue.

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.

The paper introduces a data browser for Project MinE, providing open-access whole-genome sequencing data from ALS patients and controls to support research without requiring advanced bioinformatics skills.

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

The paper uses genome-wide association studies to show human and pneumococcal genetic variation influences susceptibility and severity of pneumococcal meningitis.

This paper develops a deep learning approach to predict ALS from genotype by leveraging genome structure, showing better performance than other methods.

This study identifies genetic variants and networks associated with ALS using GWAS data, revealing novel loci and functional sub-networks linked to disease.

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

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.

This study uses pathway analysis on schizophrenia GWAS data to identify enrichment in synaptic plasticity and neurotransmitter synapse gene sets, supporting a role for postsynaptic signaling in schizophrenia.

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.