arXivDaily arXiv每日学术速递 周一至周五更新
arXiv 2404.01191stat.ME
收藏

一种用于生物样本库数据稳健高效学习的半参数方法

A Semiparametric Approach for Robust and Efficient Learning with Biobank Data

Molei Liu, Xinyi Wang, Chuan Hong

AI总结:

本文提出一种无监督半参数方法,联合建模带噪EHR结局与生物样本库特征,在无需真实疾病结局的情况下实现稳健高效的风险建模和表型识别,并在模拟及II型糖尿病应用中优于现有方法。

摘要:

随着与生物样本库数据相链接的电子健康记录(EHR)在转化研究中的可用性不断提高,实现其潜力的一个关键步骤是准确地对患者进行表型分类。实现这一目标的现有方法基于容易出错的EHR替代结局,并借助通过医疗图表审查获得的一小组标签进行辅助和验证,而这些标签也可能存在错误分类。忽略这些结局中的噪声会对EHR表型识别以及利用生物样本库中收集的生物标志物进行风险建模造成严重的估计和验证偏倚。为克服这一挑战,我们提出了一种新颖的无监督半参数方法,用于联合建模多个带噪声的EHR结局及其关联的生物样本库特征。我们的方法主要旨在利用基线生物标志物进行疾病风险建模,同时也能够产生一个预测性EHR表型识别模型,并在没有真实疾病结局观测的情况下验证其性能。该方法由不依赖任何参数模型设定的复合回归和非参数回归步骤组成,随后通过一个参数投影步骤来降低不确定性并提高估计效率。我们证明,我们的方法对参数假设的违反具有稳健性,同时在风险建模上达到理想的根号n收敛速度。我们开发的方法在广泛的模拟研究中以及一项针对II型糖尿病表型识别和遗传风险建模的实际应用中均优于现有方法。

英文摘要:

With the increasing availability of electronic health records (EHR) linked with biobank data for translational research, a critical step in realizing its potential is to accurately classify phenotypes for patients. Existing approaches to achieve this goal are based on error-prone EHR surrogate outcomes, assisted and validated by a small set of labels obtained via medical chart review, which may also be subject to misclassification. Ignoring the noise in these outcomes can induce severe estimation and validation bias to both EHR phenotyping and risking modeling with biomarkers collected in the biobank. To overcome this challenge, we propose a novel unsupervised and semiparametric approach to jointly model multiple noisy EHR outcomes with their linked biobank features. Our approach primarily aims at disease risk modeling with the baseline biomarkers, and is also able to produce a predictive EHR phenotyping model and validate its performance without observations of the true disease outcome. It consists of composite and nonparametric regression steps free of any parametric model specification, followed by a parametric projection step to reduce the uncertainty and improve the estimation efficiency. We show that our method is robust to violations of the parametric assumptions while attaining the desirable root-$n$ convergence rates on risk modeling. Our developed method outperforms existing methods in extensive simulation studies, as well as a real-world application in phenotyping and genetic risk modeling of type II diabetes.

机构、总结、中文摘要均由AI分析而来,可能存在错误,请以论文正文为准。

↑