Myriam Mni

Integrated cell type-specific analysis of blood and gut identifies matching eQTL for 140 IBD risk loci and entrectinib as possible repurposing candidate.

The paper identifies 140 IBD risk loci with matching eQTL in blood and gut tissues and suggests entrectinib as a potential repurposing drug.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

Frequency of mosaicism points towards mutation-prone early cleavage cell divisions.

Cattle pedigrees indicate up to ~30% of de novo mutations in male gametes and ~50% in female gametes arise during early cleavage divisions, leaving parental mosaicism and sibling sharing.

Association mapping of inflammatory bowel disease loci to single variant resolution

This study fine-maps 94 inflammatory bowel disease loci to identify 45 causal variants with high confidence, providing insights into their functional impacts on disease mechanisms.