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Bio marker identification for diagnosis of schizophrenia with integrated analysis of fMRI and SNPs

机译:结合功能磁共振成像和单核苷酸多态性分析的生物标志物鉴定用于精神分裂症的诊断

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摘要

It is important to identify significant biomarkers such as SNPs for medical diagnosis and treatment. However, the size of a biological sample is usually far less than the number of measurements, which makes the problem more challenging. To overcome this difficulty, we propose a sparse representation based variable selection (SRVS) approach. A simulated data set was first tested to demonstrate the advantages and properties of the proposed method. Then, we applied the algorithm to a joint analysis of 759075 SNPs and 153594 functional magnetic resonance imaging (fMRJ) voxels in 208 subjects (92 cases/116 controls) to identify significant biomarkers for schizophrenia (SZ). When compared with previous studies, our proposed method located 20 genes out of the top 45 SZ genes that are publicly reported We also detected some interesting functional brain regions from the fMRI study. In addition, a leave one out (LOO) cross-validation was performed and the results were compared with that of a previously reported method, which showed that our method gave significantly higher classification accuracy. In addition, the identification accuracy with integrative analysis is much better than that of using single type of data, suggesting that integrative analysis may lead to better diagnostic accuracy by combining complementary SNP and fMRI data.
机译:识别重要的生物标记物(例如SNP)以进行医学诊断和治疗非常重要。但是,生物样品的大小通常远远小于测量数量,这使问题更具挑战性。为克服此困难,我们提出了一种基于稀疏表示的变量选择(SRVS)方法。首先对模拟数据集进行测试,以证明所提出方法的优点和特性。然后,我们将该算法应用于208位受试者(92例/ 116例对照)中的759075个SNP和153594个功能磁共振成像(fMRJ)体素的联合分析,以识别精神分裂症(SZ)的重要生物标志物。与以前的研究相比,我们提出的方法从公开报道的45个SZ最高基因中定位20个基因。我们还从fMRI研究中检测到一些有趣的功能性大脑区域。此外,还进行了留一法(LOO)交叉验证,并将结果与​​先前报道的方法进行了比较,这表明我们的方法具有明显更高的分类准确性。此外,整合分析的识别准确度比使用单一类型的数据要好得多,这表明整合分析可以通过结合互补的SNP和fMRI数据来提高诊断准确性。

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