arXiv:2501.16373cs.LGcs.AI2025-01被引 14

通过离散线索融合文本与病历信号,提升罕见病预测效果

Unveiling Discrete Clues: Superior Healthcare Predictions for Rare Diseases

  • 引入条件感知的离散编码机制,增强罕见病表征
  • 在三个数据集上显著优于基线方法,提升预测性能
  • 适合医疗AI研究者和罕见病诊疗系统开发者

精准的医疗预测对改善患者预后至关重要。现有方法多依赖注意力或图网络捕捉电子健康记录中的复杂共现(CO)信号,但罕见病因共现稀少且适配方法不足,预测仍具挑战。本文提出UDC,通过在统一语义空间中揭示离散线索,连接一致的文本知识与共现信号,从而丰富罕见病的表征语义。针对两大关键问题:(1) 获取可区分的离散编码以精确表示疾病;(2) 实现文本知识与共现信号在代码层面的语义对齐。针对第一点,改进标准向量量化过程,加入条件感知;在解码阶段采用先进对比学习,使用合成与跨域样本作为难负例,增强重建表示的下游感知性。针对第二点,引入基于共教师蒸馏的新型代码本更新策略,实现文本知识与共现信号间的双向监督,使语义等价信息在共享离散潜在空间中对齐。在三个数据集上的大量实验验证了该方法的优越性。

原文摘要 · Abstract (English)

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.

罕见病医疗预测离散编码

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