Department of Molecular and Cellular Pharmacology, Miller School of Medicine, University of Miami, Miami, USA.
Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, USA.
Psychiatry Clin Neurosci. 2017 Oct;71(10):663-672. doi: 10.1111/pcn.12550. Epub 2017 Aug 2.
RNA sequencing (RNA-Seq), a revolutionary tool for transcriptome profiling, is becoming increasingly important for neuroscientists in studying the transcriptional landscape of the human brain. Studies using this next-generation sequencing technique have already revealed novel insights into the complexity of neurons in the human brain and pathogenesis of complex neurological diseases. In clinical neuroscience, RNA-Seq provides exciting opportunities for improving diagnosis and treatment of neurological diseases by facilitating the development of pharmacotherapies able to modulate gene expression. Furthermore, integrative whole genome sequencing and transcriptome sequencing can provide additional information for the functional role of mutated genes, prioritization of variants, and intron/exon splicing. This review describes the current state of RNA-Seq studies in neuropsychiatric disorders using post-mortem human brains, a brief survey of best practices for experimental design and sequencing data analysis, and the challenges associated with its application in the human brain.
RNA 测序（RNA-Seq）是一种用于转录组分析的革命性工具，对于研究人类大脑的转录景观，神经科学家越来越重视。使用这项下一代测序技术的研究已经揭示了人类大脑神经元复杂性和复杂神经疾病发病机制的新见解。在临床神经科学中，RNA-Seq 通过促进能够调节基因表达的药物治疗的发展，为改善神经疾病的诊断和治疗提供了令人兴奋的机会。此外，整合全基因组测序和转录组测序可以为突变基因的功能作用、变异优先级和内含子/外显子剪接提供额外信息。本综述描述了使用死后人脑进行神经精神障碍的 RNA-Seq 研究的现状，简要调查了实验设计和测序数据分析的最佳实践，以及在人类大脑中应用所面临的挑战。
