Global S&T Development Trend Analysis Platform of Resources and Environment
DOI | 10.1126/science.aat8464 |
Comprehensive functional genomic resource and integrative model for the human brain | |
Wang, Daifeng1,2,3; Liu, Shuang1,2; Warrell, Jonathan1,2; Won, Hyejung4,5; Shi, Xu1,2; Navarro, Fabio C. P.1,2; Clarke, Declan1,2; Gu, Mengting1; Emani, Prashant1,2; Yang, Yucheng T.1,2; Xu, Min1,2; Gandal, Michael J.6; Lou, Shaoke1,2; Zhang, Jing1,2; Park, Jonathan J.1,2; Yan, Chengfei1,2; Rhie, Suhn Kyong7,8; Manakongtreecheep, Kasidet1,2; Zhou, Holly1,2; Nathan, Aparna1,2; Peters, Mette9; Mattei, Eugenio10; Fitzgerald, Dominic11; Brunetti, Tonya11; Moore, Jill10; Jiang, Yan12; Girdhar, Kiran13; Hoffman, Gabriel E.13; Kalayci, Selim13; Gumus, Zeynep H.13; Crawford, Gregory E.14; Roussos, Panos12,13; Akbarian, Schahram12,15; Jaffe, Andrew E.16,17,18; White, Kevin P.11,19; Weng, Zhiping10; Sestan, Nenad20,21; Geschwind, Daniel H.22,23,24; Knowles, James A.25; Gerstein, Mark B.1,2,26,27 | |
2018-12-14 | |
发表期刊 | SCIENCE
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ISSN | 0036-8075 |
EISSN | 1095-9203 |
出版年 | 2018 |
卷号 | 362期号:6420页码:1266-+ |
文章类型 | Article |
语种 | 英语 |
国家 | USA |
英文摘要 | Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains similar to 79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Integration shows that varying cell-type proportions largely account for the cross-population variation in expression (with >88% reconstruction accuracy). It also allows building of a gene regulatory network, linking genome-wide association study variants to genes (e.g., 321 for schizophrenia). We embed this network into an interpretable deep-learning model, which improves disease prediction by similar to 6-fold versus polygenic risk scores and identifies key genes and pathways in psychiatric disorders. |
领域 | 地球科学 ; 气候变化 ; 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000452994400043 |
WOS关键词 | WIDE ASSOCIATION ; SUSCEPTIBILITY LOCI ; GENE-EXPRESSION ; CHROMATIN STATES ; DISEASE ; RISK ; TRANSCRIPTOME ; ARCHITECTURE ; METAANALYSIS ; GENOTYPE |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/200317 |
专题 | 地球科学 资源环境科学 气候变化 |
作者单位 | 1.Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA; 2.Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA; 3.SUNY Stony Brook, Dept Biomed Informat, Stony Brook, NY 11794 USA; 4.Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA; 5.Univ N Carolina, UNC Neurosci Ctr, Chapel Hill, NC 27599 USA; 6.Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst, Dept Psychiat, 695 Charles E Young Dr South, Los Angeles, CA 90095 USA; 7.Univ Calif Los Angeles, Keck Sch Med, Los Angeles, CA 90007 USA; 8.Univ Calif Los Angeles, Norris Comprehens Canc Ctr, Los Angeles, CA 90007 USA; 9.Sage Bionetworks, Seattle, WA 98109 USA; 10.Univ Massachusetts, Med Sch, Program Bioinformat & Integrat Biol, Worcester, MA 01605 USA; 11.Univ Chicago, Dept Human Genet, Inst Genom & Syst Biol, Chicago, IL 60637 USA; 12.Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA; 13.Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA; 14.Duke Univ, Dept Pediat, Ctr Genom & Computat Biol, Durham, NC 27708 USA; 15.Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA; 16.Johns Hopkins Bloomberg Sch Publ Hlth, Johns Hopkins Med Campus, Lieber Inst Brain Dev, Baltimore, MD 21205 USA; 17.Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA; 18.Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA; 19.Tempus Labs, Chicago, IL 60654 USA; 20.Yale Sch Med, Dept Neurosci, New Haven, CT 06520 USA; 21.Yale Sch Med, Kavli Inst Neurosci, New Haven, CT 06520 USA; 22.Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA; 23.Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst, Program Neurobehav Genet, Los Angeles, CA 90095 USA; 24.Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst, Dept Neurol,Ctr Autism Res & Treatment, Los Angeles, CA 90095 USA; 25.Suny Downstate Med Ctr, Coll Med, Brooklyn, NY 11203 USA; 26.Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA; 27.Yale Univ, Dept Stat & Data Sci, New Haven, CT 06520 USA |
推荐引用方式 GB/T 7714 | Wang, Daifeng,Liu, Shuang,Warrell, Jonathan,et al. Comprehensive functional genomic resource and integrative model for the human brain[J]. SCIENCE,2018,362(6420):1266-+. |
APA | Wang, Daifeng.,Liu, Shuang.,Warrell, Jonathan.,Won, Hyejung.,Shi, Xu.,...&Gerstein, Mark B..(2018).Comprehensive functional genomic resource and integrative model for the human brain.SCIENCE,362(6420),1266-+. |
MLA | Wang, Daifeng,et al."Comprehensive functional genomic resource and integrative model for the human brain".SCIENCE 362.6420(2018):1266-+. |
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