Diana Chang

GEMS associates GWAS variants with cell types using sequence-to-function predictions, revealing cell-type-specific mechanisms for disease risk variants.

scEPS integrates GWAS and single-cell data to identify disease-associated cell neighborhoods by testing gene expression variance explained in disease contexts.

This study identifies a genome-wide significant variant associated with sepsis-associated ARDS risk, linking cholesterol metabolism to ARDS susceptibility.

The paper identifies COPD risk genes using Drosophila melanogaster, validating their role in epithelial barrier function through nAchR signaling in the gut.

The paper evaluates computational tools for accurately inferring HLA alleles and KIR haplotypes from whole-genome or whole-exome sequencing data, showing high accuracy for both tasks.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.