Subra Kugathasan

snATAC-Express infers Gene Expression from Prioritized Chromatin Accessibility Peaks using Machine Learning

The paper develops a machine learning pipeline to infer gene expression from chromatin accessibility peaks using single nuclear multi-omic data, finding that important peaks are enriched in GWAS variants for inflammatory bowel disease and lupus.

Stratification of Risk of Progression to Colectomy in Ulcerative Colitis using Measured and Predicted Gene Expression

The paper uses measured and predicted gene expression to identify ulcerative colitis patients at elevated risk of colectomy, showing both methods independently replicate in multiple datasets.

Trans-ethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals shared but also ethnicity-specific disease associations

This study identifies shared and ethnicity-specific HLA associations with ulcerative colitis through trans-ethnic analysis of diverse populations.

Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

The paper identifies 7 novel IBD-causing genes in Ashkenazi Jewish IBD patients using exome sequencing and analyzes their overlap with early-onset IBD and other diseases.