检测外周血白细胞中小儿自闭症的甲基组生物标志物。
Detecting Methylomic Biomarkers of Pediatric Autism in the Peripheral Blood Leukocytes.
机构信息
BioKnow Health Informatics Lab, College of Computer Science and Technology, and Key Laboratory of Symbolic Computation and Knowledge Engineering of Ministry of Education, Jilin University, Changchun, 130012, Jilin, China.
BioKnow Health Informatics Lab, College of Software, and Key Laboratory of Symbolic Computation and Knowledge Engineering of Ministry of Education, Jilin University, Changchun, 130012, Jilin, China.
出版信息
Interdiscip Sci. 2019 Jun;11(2):237-246. doi: 10.1007/s12539-019-00328-9. Epub 2019 Apr 16.
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.
自闭症是一组多种复杂疾病的谱系，需要一个跨学科的专家组做出诊断决策。遗传和环境因素在自闭症的发病中都起着至关重要的作用。因此，本研究假设甲基组生物标志物可能有助于自闭症的准确检测。本研究使用外周血样的甲基组学数据，利用一系列全面的生物标志物检测算法，来寻找用于自闭症检测的最佳甲基组学生物标志物。最佳模型使用 678 个甲基组学生物标志物和 10 倍交叉验证策略，达到了 99.70%的准确率。一些甲基组学生物标志物经实验证实与自闭症的发病或发展有关。
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