Clara Sze-Man Tang

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

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

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.

KS-Burden assesses distributional differences of rare variants between affected and unaffected subjects, outperforming SKAT-O in scenarios with causal variant clusters.