Nicholas J. Hand

G4mer identifies G-quadruplexes and disease variants from population-scale genetic data, improving accuracy and highlighting sequence features affecting rG4 formation.

This paper investigates the role of PPP1R3B in hepatic metabolism, finding it acts as a switch that promotes glycogen storage over lipid accumulation, with implications for metabolic diseases.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

The paper fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.