Jack Satsangi

Resolving inflammatory bowel disease risk variants to genes and cell types

This study identifies 619 IBD risk signals, resolves 81 high-confidence variants, and prioritizes 664 candidate effector genes using GWAS, eQTL, and exome sequencing.

Exome sequencing directly implicates 68 genes in inflammatory bowel disease

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

The paper identifies shared expression patterns of genetic variants across tissues and cell types, enabling fine mapping of disease-associated variants and revealing key cell types involved in disease pathogenesis.

Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at ADCY7

This study uses whole genome sequencing to explore the genetic architecture of inflammatory bowel diseases, identifying a risk variant in ADCY7 for ulcerative colitis but finding limited contribution of low-frequency variants to heritability.

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

This study identifies 26 new genetic loci associated with inflammatory bowel disease, including integrin genes linked to immune activation and disease risk.

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.