5 papers · 1 filter
Shapley Regression for Rare Disease Diagnosis Support: a case study on APDS
Safa Alsaidi, Tomás Brogueira, Nizar Mahlaoui +5
Activated PI3K8 Syndrome (APDS) is a rare genetic immune disorder caused by variants in PIK3CD or PIK3R1, with highly heterogeneous symptoms that often delay diagnosis. Early recog…
Clinical Data Goes MEDS? Let's OWL make sense of it
Alberto Marfoglia, Jong Ho Jhee, Adrien Coulet
The application of machine learning on healthcare data is often hindered by the lack of standardized and semantically explicit representation, leading to limited interoperability a…
Predicting clinical outcomes from patient care pathways represented with temporal knowledge graphs
Jong Ho Jhee, Alberto Megina, Pacôme Constant Dit Beaufils +4
Background: With the increasing availability of healthcare data, predictive modeling finds many applications in the biomedical domain, such as the evaluation of the level of risk f…
Step-by-Step Guidance to Differential Anemia Diagnosis with Real-World Data and Deep Reinforcement Learning
Lillian Muyama, Estelle Lu, Geoffrey Cheminet +5
Clinical diagnostic guidelines outline the key questions to answer to reach a diagnosis. Inspired by guidelines, we aim to develop a model that learns from electronic health record…
Deep Reinforcement Learning for Personalized Diagnostic Decision Pathways Using Electronic Health Records: A Comparative Study on Anemia and Systemic Lupus Erythematosus
Lillian Muyama, Antoine Neuraz, Adrien Coulet
Background: Clinical diagnosis is typically reached by following a series of steps recommended by guidelines authored by colleges of experts. Accordingly, guidelines play a crucial…