Giordano Bottà

Prediction of incident coronary artery disease in individuals with zero coronary artery calcium using a novel multi-ancestry, label-free polygenic risk score framework

This paper develops a label-free polygenic risk score framework to identify residual CAD risk in individuals with zero coronary artery calcium, finding higher risk in top PRS groups despite normal imaging.

Genetic assessments of breast cancer risk that do not account for polygenic background are incomplete and lead to incorrect preventative strategies

The paper shows that polygenic risk scores significantly affect the penetrance of rare breast cancer mutations and highlights the importance of including polygenic background in genetic risk assessments.

Software as a Service for the Genomic Prediction of Complex Diseases.

The paper develops a SaaS tool for genomic risk prediction of complex diseases using PRS and demonstrates its superior predictive performance compared to existing methods and clinical markers.

Natural diversity of the malaria vector Anopheles gambiae

The paper sequences genomes of 765 malaria vector mosquitoes to study genetic diversity and insecticide resistance.