Edoardo Fiorillo

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

This study investigates how DNMT3A-R882 mutations affect HSC differentiation into immune cells, finding they drive dysfunctional neutropoiesis linked to immune dysregulation and inflammatory disease risk.

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

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

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 investigates how mutation timing, fitness, and clonal structure influence the clinical progression of clonal hematopoiesis using longitudinal cohort data.

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