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cs.LG2025
A Weakly Supervised Transformer for Rare Disease Diagnosis and Subphenotyping from EHRs with Pulmonary Case Studies
Kimberly F. Greco, Zongxin Yang, Mengyan Li +6
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…
cs.LG2024
Unified Representation of Genomic and Biomedical Concepts through Multi-Task, Multi-Source Contrastive Learning
Hongyi Yuan, Suqi Liu, Kelly Cho +3
We introduce GENomic Encoding REpresentation with Language Model (GENEREL), a framework designed to bridge genetic and biomedical knowledge bases. What sets GENEREL apart is its ab…