Paul Kwong Hang Tam

GGI-RUNNER identifies rare variant gene interactions linked to complex diseases and reveals interconnected gene networks.

This paper introduces a new statistical method, RUNNER, to detect rare variants associated with complex diseases by comparing observed mutation burdens to predicted baseline values, showing improved power over existing methods.

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

The paper identifies noncoding genetic variants associated with Hirschsprung disease using a framework that captures multi-granular regulatory element perturbations.

The paper uses whole exome sequencing to identify ciliary gene mutations in nonsyndromic biliary atresia, finding significant enrichment of deleterious variants in liver-expressed ciliary genes.