mlsanityData to 14 Oct 2026

Unveiling Discrete Clues: Superior Healthcare Predictions for Rare Diseases

arXiv 2501.16373 ↗First posted 23 Jan 2025cs.LG cs.AI cs.CEcited by 5

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Abstract (arXiv)

Accurate healthcare prediction is essential for improving patient outcomes. Existing work primarily leverages advanced frameworks like attention or graph networks to capture the intricate collaborative (CO) signals in electronic health records. However, prediction for rare diseases remains challenging due to limited co-occurrence and inadequately tailored approaches. To address this issue, this paper proposes UDC, a novel method that unveils discrete clues to bridge consistent textual knowledge and CO signals within a unified semantic space, thereby enriching the representation semantics of rare diseases. Specifically, we focus on addressing two key sub-problems: (1) acquiring distinguishable discrete encodings for precise disease representation and (2) achieving semantic alignment between textual knowledge and the CO signals at the code level. For the first sub-problem, we refine the standard vector quantized process to include condition awareness. Additionally, we develop an advanced contrastive approach in the decoding stage, leveraging synthetic and mixed-domain targets as hard negatives to enrich the perceptibility of the reconstructed representation for downstream tasks. For the second sub-problem, we introduce a novel codebook update strategy using co-teacher distillation. This approach facilitates bidirectional supervision between textual knowledge and CO signals, thereby aligning semantically equivalent information in a shared discrete latent space. Extensive experiments on three datasets demonstrate our superiority.

Key facts. Cited by 5 papers in the map (data through 14 Oct 2026). Builds on 32 of its 61 references that are in the map. First posted on arXiv 23 Jan 2025.

Builds on

32 of 61 references.

References · 32

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20 more
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Cited by year (2026 to 14 Oct)

Citing papers per year: 2025: 2; 2026: 3.

5 papers.

Similar, not cited

Close in wording, no citation either way

  1. 2025A Specialized Large Language Model for Clinical Reasoning and Diagnosis in Rare Diseases
  2. 2026RareAlert: Aligning heterogeneous large language model reasoning for early rare disease risk screening
  3. 2023Large Language Models with Retrieval-Augmented Generation for Zero-Shot Disease Phenotyping
  4. 2024Zebra-Llama: A Context-Aware Large Language Model for Democratizing Rare Disease Knowledge
  5. 2026RareDxR1: Autonomous Medical Reasoning for Rare Disease Diagnosis Beyond Human Annotation
  6. 2025RDMA: Cost Effective Agent-Driven Rare Disease Mining from Electronic Health Records
  7. 2026RareLens: Towards End-to-End Rare Disease Care via Aligning Divergent Large Language Model Reasoning
  8. 2025Knowledge Graph Augmented Large Language Models for Disease Prediction