用二值标签直接提升电子病历表型识别精度,无需复杂校准。
Using binary silver labels in electronic health records-based computable phenotyping algorithms

- 直接使用二值标签进行去噪建模,跳过传统转换步骤。
- 在过敏和胰腺炎案例中AUC提升至0.89以上,性能显著增强。
- 适合有丰富二值标签的临床数据,尤其适用于高维病历场景。
电子病历研究中常因需人工审阅而缺乏大规模金标准表型标签。弱监督表型识别方法通常使用银标准标签,如诊断码数量、NLP提及、用药指示或实验室阈值。现有主流方法PheNorm专为计数型银标签设计,依赖对数变换、归一化及高斯混合建模,不适用于常见且信息丰富的二值标签。本文提出Binary PheNorm,将二值标签直接用于污染与回归去噪步骤,生成连续表型评分,无需EM校准。还引入基于Lasso正则化的版本以应对高维场景,并探索二值与计数标签联合模型。模拟实验显示,仅用二值标签即可实现良好区分度,结合计数标签后性能进一步提升:在过敏病例中,肾上腺素提及指标的AUC从0.793升至0.891–0.892;在急性胰腺炎中,脂肪酶阈值指标的AUC从0.736升至0.805–0.819。结果表明,当存在有效二值银标签时,Binary PheNorm是一种实用且高效的弱监督方法。
原文摘要 · Abstract (English)
Gold-standard phenotype labels are often unavailable at scale in electronic health record (EHR) studies because they require manual chart review. Weakly supervised phenotyping methods instead use silver-standard labels, such as diagnosis-code counts, natural language processing (NLP) mentions, medication indicators, or laboratory thresholds. PheNorm is widely used for this purpose, but its original formulation was designed for count-valued silver labels and relies on log transformation, utilization normalization, and Gaussian mixture modeling. These steps are not directly suited to binary silver labels, which are common and may be highly informative. We propose Binary PheNorm, an extension that uses binary silver labels directly in the corruption-and-regression denoising step and produces a continuous phenotype score without EM calibration. We also consider a lasso-regularized version for high-dimensional EHR settings and combined models using both binary and count labels. In simulations, Binary PheNorm achieved strong discrimination using binary labels alone and often improved performance when combined with count labels. In anaphylaxis, AUC increased from 0.793 for an epinephrine-mention indicator to 0.891-0.892 after Binary PheNorm. In acute pancreatitis, AUC increased from 0.736 for a lipase-threshold indicator to 0.805-0.819. These results support Binary PheNorm as a practical weakly supervised approach when informative binary silver labels are available.
Thank you to arXiv for use of its open access interoperability. PaperDance 不是 arXiv 官方产品;中文卡片由大模型生成,请以原文为准。