Akbarian Schahram, Liu Chunyu, Knowles James A, Vaccarino Flora M, Farnham Peggy J, Crawford Gregory E, Jaffe Andrew E, Pinto Dalila, Dracheva Stella, Geschwind Daniel H, Mill Jonathan, Nairn Angus C, Abyzov Alexej, Pochareddy Sirisha, Prabhakar Shyam, Weissman Sherman, Sullivan Patrick F, State Matthew W, Weng Zhiping, Peters Mette A, White Kevin P, Gerstein Mark B, Amiri Anahita, Armoskus Chris, Ashley-Koch Allison E, Bae Taejeong, Beckel-Mitchener Andrea, Berman Benjamin P, Coetzee Gerhard A, Coppola Gianfilippo, Francoeur Nancy, Fromer Menachem, Gao Robert, Grennan Kay, Herstein Jennifer, Kavanagh David H, Ivanov Nikolay A, Jiang Yan, Kitchen Robert R, Kozlenkov Alexey, Kundakovic Marija, Li Mingfeng, Li Zhen, Liu Shuang, Mangravite Lara M, Mattei Eugenio, Markenscoff-Papadimitriou Eirene, Navarro Fábio C P, North Nicole, Omberg Larsson, Panchision David, Parikshak Neelroop, Poschmann Jeremie, Price Amanda J, Purcaro Michael, Reddy Timothy E, Roussos Panos, Schreiner Shannon, Scuderi Soraya, Sebra Robert, Shibata Mikihito, Shieh Annie W, Skarica Mario, Sun Wenjie, Swarup Vivek, Thomas Amber, Tsuji Junko, van Bakel Harm, Wang Daifeng, Wang Yongjun, Wang Kai, Werling Donna M, Willsey A Jeremy, Witt Heather, Won Hyejung, Wong Chloe C Y, Wray Gregory A, Wu Emily Y, Xu Xuming, Yao Lijing, Senthil Geetha, Lehner Thomas, Sklar Pamela, Sestan Nenad
Icahn School of Medicine at Mount Sinai, New York, New York, USA.
University of Illinois at Chicago, Chicago, Illinois, USA.
Nat Neurosci. 2015 Dec;18(12):1707-12. doi: 10.1038/nn.4156.
Recent research on disparate psychiatric disorders has implicated rare variants in genes involved in global gene regulation and chromatin modification, as well as many common variants located primarily in regulatory regions of the genome. Understanding precisely how these variants contribute to disease will require a deeper appreciation for the mechanisms of gene regulation in the developing and adult human brain. The PsychENCODE project aims to produce a public resource of multidimensional genomic data using tissue- and cell type–specific samples from approximately 1,000 phenotypically well-characterized, high-quality healthy and disease-affected human post-mortem brains, as well as functionally characterize disease-associated regulatory elements and variants in model systems. We are beginning with a focus on autism spectrum disorder, bipolar disorder and schizophrenia, and expect that this knowledge will apply to a wide variety of psychiatric disorders. This paper outlines the motivation and design of PsychENCODE.
近期针对不同精神疾病的研究表明,参与全局基因调控和染色质修饰的基因中存在罕见变异,同时也发现许多常见变异主要位于基因组的调控区域。要准确理解这些变异如何导致疾病,就需要更深入地认识发育中和成人人脑中的基因调控机制。精神基因组学编码(PsychENCODE)项目旨在利用来自约1000个表型特征明确、高质量的健康和患病人类尸检大脑的组织和细胞类型特异性样本,生成多维基因组数据的公共资源,并在模型系统中对疾病相关调控元件和变异进行功能表征。我们首先聚焦于自闭症谱系障碍、双相情感障碍和精神分裂症,预计这些知识将适用于多种精神疾病。本文概述了精神基因组学编码项目的动机和设计。