Shapley Regression for Rare Disease Diagnosis Support: a case study on APDS

arXiv:2605.08897v1 Announce Type: cross Abstract: 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 recognition is hampered by overlapping clinical presentations and limited...