Rebecca S. Fine

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

The paper introduces a method to prioritize causal genes for complex traits by integrating GWAS data with gene expression and biological data, achieving high precision in gene-trait pair identification.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms

Benchmarker evaluates gene prioritization algorithms using GWAS data through cross-validation, showing that combining strategies improves gene prioritization quality.

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.