Sini Nagpal

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

The paper quantifies PGS-by-Exposure interactions for seven diseases and 75 exposures in the UK Biobank, finding 3.1% significant interactions and introducing the PNB metric to highlight disparities in benefit across social groups.

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.

The paper introduces a Bayesian method for transcriptomic data imputation that improves gene mapping of complex traits by enhancing imputation accuracy and TWAS power over existing tools.

The paper introduces the Medical Genome Reference Bank, a resource of whole genome sequences and phenotypes from 2,570 healthy elderly Australians, showing fewer disease-associated variants and age-related somatic changes linked to grip strength.