Bram L. Gorissen

FELIX improves genetic association analysis by accounting for local ancestry in admixed populations, increasing significant loci and improving polygenic score prediction.

The paper introduces scE2G models to predict enhancer-gene regulatory interactions from single-cell data and demonstrates their performance across multiple cell types and perturbations.

The paper introduces nucCAGE and PRIME to identify active cis-regulatory elements with high sensitivity and applies them to create a cell-type-resolved CRE atlas.

The paper develops a framework to map rare variants onto protein structures and identifies disease-associated 3D neighborhoods in 872 genes for Mendelian disease and others for autism, epilepsy, and schizophrenia.

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

Cell Painting in primary human hepatocytes exposed to 1,085 compounds detects bioactivity at lower concentrations than cytotoxicity assays and predicts cell-based, but not cell-free, ToxCast endpoints across feature extractors.

The paper identifies naturally variable exons in human transcripts, showing their prevalence and impact on gene expression and genetic interpretation.

The paper identifies enhancer-AAV tools for specific neuronal subtypes and validates them across species.

The paper introduces Inferelator 3.0, a tool for inferring gene regulatory networks from single-cell data, showing improved performance on yeast and mouse brain datasets.

The paper identifies enhancers for targeting specific neuronal subtypes across species and demonstrates their utility in circuit manipulation.