Research
The Gentiluomo Lab at the University of Pisa focuses on the genetic architecture of complex diseases, integrating large-scale genomic data, long-read sequencing, and international collaborative frameworks to improve pancreatic cancer risk stratification.
World's Largest GWAS on panNEN
I am currently coordinating the most extensive Genome-Wide Association Study (GWAS) on pancreatic neuroendocrine neoplasms (panNEN) to date. This global effort aims to identify germline susceptibility loci that drive the development of these rare tumours.
Key collaborators
Dataset scope
Meta-analysis of multi-centric datasets involving high-density genotyping (GSA-24) and rigorous quality control across European and North American cohorts.
Structural Variants in PDAC — Human Technopole
Supported by the 2024 Human Technopole Competitive Access Grant, we are utilising Oxford Nanopore Technologies (ONT) to map germline structural variations in patients with pancreatic ductal adenocarcinoma (PDAC). The grant covers ONT whole-genome sequencing for 32 samples at 20–30X coverage — a service with an estimated market value of >€50,000.
GWAS Pipeline — Open-source guide & code
A methodological review and fully reproducible codebase documenting the complete GWAS analysis pipeline — from raw data quality control to post-GWAS interpretation. Designed to serve as a practical reference for the community, with annotated code available on GitHub.
The PANDoRA Network
As a leading member of the PANDoRA consortium, I coordinate international studies identifying common and rare germline variants associated with pancreatic cancer risk. By integrating genetic data with environmental factors, we develop multifactorial models for precision prevention.
COST Action TRANSPAN
Focusing on data harmonisation and multi-centric genetic analysis across European partners to identify biomarkers for early detection and treatment response. I serve as Grant Awarding Coordinator (2022–2026).
TRANSPAN Official Site ↗Grants & Funding
Competitive Access Grant — Human Technopole
National Facility for Genomics (24-G-Pilot) · Human Technopole, Milan
ONT whole-genome sequencing for 32 samples at 20–30X coverage.
Estimated market value: >€50,000
Collaborations & Theses
Our lab is open to new datasets and motivated students for MSc or PhD projects.