Jeroen van Rooij

Targeted single-nucleus sequencing of 39,800 neurons reveals extensive low-frequency somatic variants

The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

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.

Genome-Wide Interaction Analysis with DASH Diet Score Identified Novel Loci for Systolic Blood Pressure

The paper identifies novel genetic loci associated with systolic blood pressure that interact with the DASH diet score through genome-wide interaction analysis.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

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.

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.

Hypothesis-free identification of modulators of genetic risk factors

The paper identifies context-dependent eQTLs in peripheral blood RNA-seq data from Dutch individuals using a hypothesis-free approach, revealing gene expression influenced by cell type and signaling pathways.