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利用机器学习方法通过钙瞬变谱检测遗传性心脏疾病。

Detection of genetic cardiac diseases by Ca transient profiles using machine learning methods.

机构信息

Faculty of Natural Sciences, University of Tampere, Tampere, Finland.

Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.

出版信息

Sci Rep. 2018 Jun 19;8(1):9355. doi: 10.1038/s41598-018-27695-5.

Abstract

Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) have revolutionized cardiovascular research. Abnormalities in Ca transients have been evident in many cardiac disease models. We have shown earlier that, by exploiting computational machine learning methods, normal Ca transients corresponding to healthy CMs can be distinguished from diseased CMs with abnormal transients. Here our aim was to study whether it is possible to separate different genetic cardiac diseases (CPVT, LQT, HCM) on the basis of Ca transients using machine learning methods. Classification accuracies of up to 87% were obtained for these three diseases, indicating that Ca transients are disease-specific. By including healthy controls in the classifications, the best classification accuracy obtained was still high: approximately 79%. In conclusion, we demonstrate as the proof of principle that the computational machine learning methodology appears to be a powerful means to accurately categorize iPSC-CMs and could provide effective methods for diagnostic purposes in the future.

摘要

人诱导多能干细胞衍生的心肌细胞(hiPSC-CMs)已经彻底改变了心血管研究。在许多心脏疾病模型中,Ca 瞬变异常已经很明显。我们之前已经表明,通过利用计算机器学习方法,可以将与健康心肌细胞相对应的正常 Ca 瞬变与具有异常瞬变的患病心肌细胞区分开来。在这里,我们的目的是研究是否可以使用机器学习方法基于 Ca 瞬变来分离不同的遗传性心脏病(CPVT、LQT、HCM)。对于这三种疾病,我们获得了高达 87%的分类准确率,这表明 Ca 瞬变是疾病特异性的。通过将健康对照纳入分类,获得的最佳分类准确率仍然很高:约 79%。总之,我们证明了这一原则,即计算机器学习方法似乎是一种准确分类 iPSC-CMs 的强大手段,并可能为未来的诊断提供有效的方法。

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