The genetic and phenotypic heterogeneity of autism spectrum disorder (ASD) impedes the unification of multiple biological hypotheses in an attempt to explain the complex features of ASD, such as impaired social communication, social interaction deficits, and restricted and repetitive patterns of behavior. However, recent psychiatric genetic studies have identified numerous risk genes and chromosome loci (copy number variation: CNV) which enable us to analyze at the single gene level and utilize system-level approaches. In this review, we focus on ASD as a major neurodevelopmental disorder and review recent findings mainly from the bioinformatics of omics studies. Additionally, by comparing these data with other major psychiatric disorders, including schizophrenia (SCZ), we identify unique characteristics of both diseases from multiple enrichment, pathway, and protein–protein interaction networks (PPIs) analyses using susceptible genes found in recent large-scale genetic studies. These unified, systematic approaches highlight unique characteristics of both disorders from multiple aspects and demonstrate how convergent pathways can contribute to an understanding of the complex etiology of such neurodevelopmental and neuropsychiatric disorders.

中文翻译：

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自闭症谱系障碍和精神分裂症多组学的分子特征

自闭症谱系障碍 (ASD) 的遗传和表型异质性阻碍了多种生物学假设的统一，以试图解释 ASD 的复杂特征，例如社会交流受损、社会互动缺陷以及行为受限和重复模式。然而，最近的精神病学遗传学研究已经确定了许多风险基因和染色体基因座（拷贝数变异：CNV），这使我们能够在单基因水平上进行分析并利用系统水平的方法。在这篇综述中，我们关注 ASD 作为一种主要的神经发育障碍，并回顾了主要来自组学研究的生物信息学的最新发现。此外，通过将这些数据与包括精神分裂症 (SCZ) 在内的其他主要精神疾病进行比较，我们从多重富集中确定了这两种疾病的独特特征，使用最近大规模遗传研究中发现的易感基因进行通路和蛋白质-蛋白质相互作用网络 (PPI) 分析。这些统一、系统的方法从多个方面突出了这两种疾病的独特特征，并展示了收敛途径如何有助于理解此类神经发育和神经精神疾病的复杂病因。