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arXiv 2103.12409stat.MEcs.LGq-bio.QM
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使用连续生物标志物分布的尾分位数的二进制疾病预测

Binary disease prediction using tail quantiles of the distribution of continuous biomarkers

Eindhoven University of Technology(埃因霍温理工大学);Brainscan BV(布瑞恩斯坎公司)

Michiel H. J. Paus, Edwin R. van den Heuvel, Marc J. M. Meddens

摘要:

在二元疾病分类的分析中,单一生物标志物可能不具有显著的区分能力,并且应从大量生物标志物中选择多个生物标志物。存在许多方法,但它们仅适用于病例和对照之间生物标志物的平均差异。然而,生物过程的异质性要大得多,其他分布特征(如方差、偏度)也可能存在差异。许多机器学习技术能够更好地利用这些高阶分布差异,有时以可解释性为代价。在这项研究中,我们提出了基于分位数的预测(QBP),一种基于选择多个连续生物标志物的二元分类方法。QBP使用病例和对照的生物标志物分布的尾部生成单个评分。然后可以通过ROC分析来评估该单一评分,以研究其预测能力。QBP的性能进行了比较,监督学习方法,使用广泛的模拟研究,和两个案例研究:抑郁症和三体。同时,评估现有技术彼此之间的分类性能。QBP的主要优势是选择相关生物标志物的机会,以及在生物标志物主要显示病例和对照之间的方差差异的情况下的出色分类性能。当生物标志物中仅存在平均值变化时,QBP获得较差的性能。最后,QBP被证明是无偏的情况下,缺乏疾病相关的生物标志物和优于其他方法的MDD病例研究。需要更多的研究来进一步优化QBP,因为它有几个机会来提高其性能。在这里,我们想介绍QBP的原理,并显示其潜力。

英文摘要:

In the analysis of binary disease classification, single biomarkers might not have significant discriminating power and multiple biomarkers from a large set of biomarkers should be selected. Numerous approaches exist, but they merely work well for mean differences in biomarkers between cases and controls. Biological processes are however much more heterogeneous, and differences could also occur in other distributional characteristics (e.g. variances, skewness). Many machine learning techniques are better capable of utilizing these higher order distributional differences, sometimes at cost of explainability. In this study we propose quantile based prediction (QBP), a binary classification method that is based on the selection of multiple continuous biomarkers. QBP generates a single score using the tails of the biomarker distributions for cases and controls. This single score can then be evaluated by ROC analysis to investigate its predictive power. The performance of QBP is compared to supervised learning methods using extensive simulation studies, and two case studies: major depression disorder and trisomy. Simultaneously, the classification performance of the existing techniques in relation to each other is assessed. The key strengths of QBP are the opportunity to select relevant biomarkers and the outstanding classification performance in the case biomarkers predominantly show variance differences between cases and controls. When only shifts in means were present in the biomarkers, QBP obtained an inferior performance. Lastly, QBP proved to be unbiased in case of absence of disease relevant biomarkers and outperformed the other methods on the MDD case study. More research is needed to further optimize QBP, since it has several opportunities to improve its performance. Here we wanted to introduce the principle of QBP and show its potential.

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。

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