Recent rapid progress in genome analysis and large-scale consortia has made it possible to discover variants with a variety of allele frequencies and effect sizes associated with psychiatric disorders. Among psychiatric disorder-susceptibility variants, rare variants with large effect sizes detected by sequencing analysis or array comparative genomic hybridization would be particularly useful for elucidating pathophysiology by developing disease models, such as genome-edited mouse or induced pluripotent stem cells. In the last decade, investigations of rare variants with large effect size have revealed an important role of neurodevelopment in the pathogenesis of psychiatric disorders. In future research, integration of recent evidence concerning the contribution of the immune system or gut microbiota will enhance our understanding of psychiatric disorders and facilitate novel drug development.

最近基因组分析和大规模联盟的快速进展使得发现具有各种等位基因频率和与精神疾病相关的效应大小的变体成为可能。在精神疾病易感性变异中，通过测序分析或阵列比较基因组杂交检测到的具有大效应量的罕见变异对于通过开发疾病模型（例如基因组编辑的小鼠或诱导多能干细胞）来阐明病理生理学特别有用。在过去十年中，对具有大效应量的罕见变异的研究揭示了神经发育在精神疾病发病机制中的重要作用。在未来的研究中，