Thouis R. Jones

This study identifies peripheral immune and metabolic tissues as key contributors to Alzheimer's disease genetic risk, independent of brain-specific factors.

The paper maps context-dependent genetic regulation of cardiometabolic loci in human adipocytes using a multi-donor cell village system and single-nucleus multiome sequencing under various metabolic stress conditions.

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.

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.

This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.

This study identifies 12 enhancers in the 9p21.3 CAD risk locus that regulate MTAP, modulating vascular cell-state transitions and CAD risk through stress-responsive mechanisms.

The paper identifies rare missense variants in LAR that destabilize the extracellular domain, disrupt LAR:NGL-3 interactions, and impair synaptic adhesion and synaptogenesis.

The paper measures enhancer-promoter compatibility in human cells using a high-throughput assay, finding a multiplicative model with some class-specific preferences.

The paper uses the ABC Model to map enhancer-gene regulation across 131 cell types and tissues, linking GWAS variants to disease genes, particularly in IBD.

The paper shows that during cerebellar development, climbing fibers add synapses to a subset of Purkinje cells through positive feedback, without pruning other connections, and that this process is economical due to matching axon and Purkinje cell numbers.

The paper introduces CRISPRi-FlowFISH to perturb enhancers and an Activity-by-Contact model to predict enhancer-gene regulatory connections.