A Weakly Supervised Transformer for Rare Disease Diagnosis and Subphenotyping from EHRs with Pulmonary Case Studies
arXiv:2507.02998v2 Announce Type: replace Abstract: Rare diseases affect an estimated 300-400 million people worldwide, yet individual conditions remain underdiagnosed and poorly characterized due to their low prevalence and limited clinician familiarity. Computational phenotyping offers a scalable approach to improving rare…
