Speaker: Simone Tomè
November 25, 2025 | 2:15 pm
DEIB, Alpha Room (Bld. 24)
Contact: Silvia Cascianelli
Abstract
Tuesday, November 25, 2025 at 2:15 pm Simone Tomè (PHD Student in Information Technology) will hold a seminar titled "Mapping the Genetic Architecture of Complex Traits with Genome-Wide Association Studies and Machine Learning" in DEIB Alpha Room (Building 24) organized by the Data Science for Bioinformatics group.Complex traits are phenotypes not attributable to a single genetic variant, but to multiple variants, often interacting with environmental factors. Chronic pain exemplifies such a trait, with substantial genetic contributions that remain incompletely understood. Genome-wide association studies (GWAS) aim to uncover the genetic basis of complex traits by testing variants across the genome for associations with the phenotype, typically using statistical learning models.
In this study, we present the results of a GWAS conducted on a cohort of chronic pain patients from IRCCS Istituto Neurologico “Carlo Besta”, subsequently validated in an independent cohort from the University of Maastricht. Within this GWAS context, we explore applications of machine learning strategies, with a particular focus on disease gene prediction, an emerging approach that leverages existing knowledge to identify potential disease-associated genes.