As part of the GARDEN Network’s focus on innovation and the 2025 Agenda, we want to highlight recent contributions in the field of Artificial Intelligence applied to medical research. Featured works include research by Peter Robinson, on the potential use of the Human Phenotype Ontology (HPO) in rare hematology, and Matteo G. Dalla Porta, presenting an AI-based, data-driven classification of myeloid neoplasms. Download the full articles below to explore how AI is shaping the future of diagnostics and personalized medicine in hematology.
- Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease
- The Unified Phenotype Ontology: a framework
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
- Towards a standard benchmark for phenotype driven variant and gene prioritisation algorithms: PhEval – Phenotypic inference Evaluation framework
- VAE-Surv: A novel approach for genetic-based clustering and prognosis prediction in myelodysplastic syndromes
