Marcella Devoto

This paper introduces a framework for quantifying uncertainty in polygenic risk scores, showing that prediction intervals vary with genetic and environmental factors.

The paper demonstrates how quantile regression can correct for subtle population stratification in genome-wide association studies using human height as an example.

Regenie.QRS is a computationally efficient whole-genome quantile regression method for biobank-scale GWAS data, showing improved power to detect heterogeneous genetic effects.

This study investigates the role of TNFSF13 in colonic epithelial cell-B cell interactions and finds that TNFSF13 insufficiency disrupts B cell differentiation and epithelial growth.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

This study performs exome sequencing in 100 patients with isolated biliary atresia to identify genetic variants, finding no common causal genes but a de novo mutation in STIP1.