Autism was a spectrum of multiple complex diseases that required an interdisciplinary group of experts to make a diagnostic decision. Both genetic and environmental factors play essential roles in causing the onset of Autism. Therefore, this study hypothesized that methylomic biomarkers may facilitate the accurate Autism detection. A comprehensive series of biomarker detection algorithms were utilized to find the best methylomic biomarkers for the Autism detection using the methylomic data of the peripheral blood samples. The best model achieved 99.70% in accuracy with 678 methylomic biomarkers and a tenfold cross validation strategy. Some of the methylomic biomarkers were experimentally confirmed to be associated with the onset or development of Autism.

中文翻译：

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检测外周血白细胞中小儿自闭症的甲基化生物标志物。

自闭症是多种复杂疾病的综合症，需要跨学科的专家小组做出诊断决定。遗传和环境因素在导致自闭症发作中都起着至关重要的作用。因此，该研究假设甲基组生物标志物可能有助于准确的自闭症检测。利用一系列全面的生物标志物检测算法，利用外周血样品的甲基化数据，找到用于自闭症检测的最佳甲基化生物标志物。最好的模型通过678种甲基生物标志物和十倍的交叉验证策略实现了99.70％的准确性。实验证明了一些甲基化生物标志物与自闭症的发生或发展有关。