Marco Masala

COLSTATS provides a web platform for colocalizing GWAS and QTL summary statistics to identify shared genetic determinants.

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.

The paper identifies a rare Sardinian founder mutation in GP1BB associated with thrombocytopenia and reduced GPIb-IX-V complex expression.