Freerk van Dijk

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.

Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples

The paper uses allele-specific expression analysis in a large cohort to identify high-impact, autosomal-dominant variants that are compensated by imbalanced expression.

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.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

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.

A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

This study creates a high-quality reference panel of structural variants from 769 Dutch individuals, revealing new variants and their linkage to known SNPs, improving imputation accuracy for genome-wide association studies.