4 papers
Knowledge Graph Extraction from Biomedical Literature for Alkaptonuria Rare Disease
Giang Pham, Rebecca Finetti, Caterina Graziani +12
Alkaptonuria (AKU) is an ultra-rare autosomal recessive metabolic disorder caused by mutations in the HGD (Homogentisate 1,2-Dioxygenase) gene, leading to a pathological accumulati…
Machine Learning for analysis of Multiple Sclerosis cross-tissue bulk and single-cell transcriptomics data
Francesco Massafra, Samuele Punzo, Silvia Giulia Galfré +8
Multiple Sclerosis (MS) is a chronic autoimmune disease of the central nervous system whose molecular mechanisms remain incompletely understood. In this study, we developed an end-…
MIEO: encoding clinical data to enhance cardiovascular event prediction
Davide Borghini, Davide Marchi, Angelo Nardone +6
As clinical data are becoming increasingly available, machine learning methods have been employed to extract knowledge from them and predict clinical events. While promising, appro…
A Machine Learning Pipeline for Multiple Sclerosis Biomarker Discovery: Comparing explainable AI and Traditional Statistical Approaches
Samuele Punzo, Silvia Giulia Galfrè, Francesco Massafra +3
We present a machine learning pipeline for biomarker discovery in Multiple Sclerosis (MS), integrating eight publicly available microarray datasets from Peripheral Blood Mononuclea…