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rare disease

9 papers

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Co-occurring keywords · papers mentioning both

large language model (3) rare disease diagnosis (2) class imbalance (2) attention mechanism (2) skin lesion (1) medical knowledge graph (1) rare disease detection (1) patient embedding (1) complementary pattern (1) patient identification (1)

Papers

CUPCase: Clinically Uncommon Patient Cases and Diagnoses Dataset AAAI 2025 DiffRGenNet: Difference-aware Medical Report Generation MIDL 2025 RareSyn: Health Record Synthesis for Rare Disease Diagnosis EMNLP 2025 DNA Language Model and Interpretable Graph Neural Network Identify Genes and Pathways Involved in Rare Diseases ACL 2024 Evaluating LLMs for Temporal Entity Extraction from Pediatric Clinical Text in Rare Diseases Context COLING 2024 RareBERT: Transformer Architecture for Rare Disease Patient Identification using Administrative Claims AAAI 2021 Addressing Sample Size Challenges in Linked Data Through Data Fusion MLHC 2020 CONAN: Complementary Pattern Augmentation for Rare Disease Detection AAAI 2020 CARE: Class Attention to Regions of Lesion for Classification on Imbalanced Data MIDL 2019