2 papers
cs.AI2026
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…
q-bio.GN2026
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-…