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Identification of Genetic Variants Underlying Anxiety and Multiple Sclerosis in Heterogeneous Stock Rats

培育生物产业，发展绿色经济——第五届中国生物产业大会·2011基因科学与产业发展论坛

作者： The 1000 Genomes Project consortium The 1000 Genomes Project consortium

The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and *** we present results of the pilot phase of the project,designed to develop and compare different strategies for genome-wide sequencing with high-throughput *** undertook three projects:low-coverage whole-genome sequencing of 179 individuals from four populations;high-coverage sequencing of two mother-father-child trios;and exon-targeted sequencing of 697 individuals from seven *** describe the location,allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms,1 million short insertions and deletions,and 20,000 structural variants,most of which were previously *** show that,because we have catalogued the vast majority of common variation,over 95%of the currently accessible variants found in any individual are present in this data *** average,each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited *** demonstrate how these results can be used to inform association and functional *** the two trios,we directly estimate the rate of de novo germline base substitution mutations to be approximately 10 per base pair per *** explore the data with regard to signatures of natural selection,and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked *** methods and public data will support the next phase of human genetic research.

关键词： A map of human genome variation from population-scale sequencing

来源： cnki会议评论

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World Journal of Neuroscience 2014年第3期4卷 216-224页

作者： Amelie Baud Jonathan Flint Alberto Fernandez-Teruel The Rat Genome Sequencing Mapping consortium EMBL-EBI Wellcome Trust Genome Campus Hinxton UK Medical Psychology Unit Department of Psychiatry & Forensic Medicine Institute of Neurosciences Universitat Autònoma de Barcelona Barcelona Spain. The Rat Genome Sequencing Mapping consortium Wellcome Trust Centre for Human Genetics Oxford UK

Identifying genetic variants that contribute to phenotypic variation is expected to provide insights into the etiology of complex traits. Here we show how combining genetic mapping in an outbred population of rats with sequence data from the progenitors of the population made it possible to identify causal variants and genes for a large number of phenotypes. We identified 355 genomic loci contributing to 122 measures relevant to six models of disease, including fear-related behaviors and experimental autoimmune encephalomyelitis. At 35 of those loci we identified the responsible gene, and in some cases, the responsible variant.

关键词： Genetic Mapping Imputation Causal Variants Anxiety Multiple Sclerosis Complex Traits

Mako:A Graph-based Pattern Growth Approach to Detect Complex Structural Variants

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Genomics, Proteomics & Bioinformatics 2022年第1期20卷 205-218页

作者： Jiadong Lin Xiaofei Yang Walter Kosters Tun Xu Yanyan Jia Songbo Wang Qihui Zhu Mallory Ryan Li Guo Chengsheng Zhang The Human Genome Structural Variation consortium Charles Lee Scott E.Devine Evan E.Eichler Kai Ye School of Automation Science and Engineering Faculty of Electronic and Information EngineeringXi’an Jiaotong UniversityXi’an 710049China MOE Key Lab for Intelligent Networks&Networks Security Faculty of Electronic and Information EngineeringXi’an Jiaotong UniversityXi’an 710049China Genome Institute the First Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710061China Leiden Institute of Advanced Computer Science Faculty of ScienceLeiden UniversityLeiden 2311EZNetherland School of Computer Science and Technology Faculty of Electronic and Information EngineeringXi’an Jiaotong UniversityXi’an 710049China The Jackson Laboratory for Genomic Medicine FarmingtonCT 06032USA Precision Medicine Center the First Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710061China Institute for Genome Sciences University of Maryland School of MedicineBaltimoreMD 21201USA Department of Genome Sciences University of Washington School of MedicineSeattleWA 98119USA Howard Hughes Medical Institute University of WashingtonSeattleWA 98195USA The School of Life Science and Technology Xi’an Jiaotong UniversityXi’an 710049China 不详

Complex structural variants(CSVs) are genomic alterations that have more than two breakpoints and are considered as the simultaneous occurrence of simple structural ***,detecting the compounded mutational signals of CSVs is challenging through a commonly used model-match *** a result,there has been limited progress for CSV discovery compared with simple structural ***,we systematically analyzed the multi-breakpoint connection feature of CSVs,and proposed Mako,utilizing a bottom-up guided model-free strategy,to detect CSVs from paired-end short-read ***,we implemented a graph-based pattern growth approach,where the graph depicts potential breakpoint connections,and pattern growth enables CSV detection without pre-defined *** evaluations on both simulated and real datasets revealed that Mako outperformed other ***,validation rates of CSVs on real data based on experimental and computational validations as well as manual inspections are around 70%,where the medians of experimental and computational breakpoint shift are 13 bp and 26 bp,***,the Mako CSV subgraph effectively characterized the breakpoint connections of a CSV event and uncovered a total of 15 CSV types,including two novel types of adjacent segment swap and tandem dispersed *** analysis of these CSVs also revealed the impact of sequence homology on the formation of *** is publicly available at https://***/xjtu-omics/Mako.

关键词： Next-generation sequencing Complex structural variant Pattern growth Graph mining Formation mechanism

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Imitating and exploring the human brain's resting and task-performing states via brain computing: scaling and architecture

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National Science Review 2024年第5期11卷 17-28页

作者： Wenlian Lu Longbin Zeng Jiexiang Wang Shitong Xiang Yang Qi Qibao Zheng Ningsheng Xu Jianfeng Feng DTB consortium Institute of Science and Technology for Brain-Inspired Intelligence Fudan University Key Laboratory of Computational Neuroscience and Brain-Inspired Intelligence(Fudan University) Ministry of Education Fudan University Shanghai Center for Mathematical Sciences Fudan University Department of Computer Science University of Warwick Zhangjiang Fudan International Innovation Center Fudan University

A computational human brain model with the voxel-wise assimilation method was established based on individual structural and functional imaging data. We found that the more similar the brain model is to the biological counterpart in both scale and architecture, the more similarity was found between the assimilated model and the biological brain both in resting states and during tasks by quantitative metrics. The hypothesis that resting state activity reflects internal body states was validated by the interoceptive circuit's capability to enhance the similarity between the simulation model and the biological brain. We identified that the removal of connections from the primary visual cortex(V1) to downstream visual pathways significantly decreased the similarity at the hippocampus between the model and its biological counterpart,despite a slight influence on the whole brain. In conclusion, the model and methodology present a solid quantitative framework for a digital twin brain for discovering the relationship between brain architecture and functions, and for digitally trying and testing diverse cognitive, medical and lesioning approaches that would otherwise be unfeasible in real subjects.

关键词： digital twin brain computational cortico-subcortical model fMRI data assimilation interoceptive circuit

Integrated lipidomics and proteomics network analysis highlights lipid and immunity pathways associated with Alzheimer's disease

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Translational Neurodegeneration 2020年第3期9卷 458-472页

作者： Jin Xu Giulia Bankov Min Kim Asger Wretlind Jodie Lord Rebecca Green Angela Hodges Abdul Hye Dag Aarsland Latha Velayudhan Richard J.B.Dobson Petroula Proitsi Cristina Legido-Quigley on behalf of the AddNeuroMed consortium Institute of Pharmaceutical Science King's College LondonLondonUK. Institute of Psychiatry Psychology&NeuroscienceKing's College LondonLondonUK. Steno Diabetes Center Copenhagen GentofteDenmark Center for Age Related Medicine Stavanger University HospitalStavangerNorway 不详

Background:There is an urgent need to understand the pathways and processes underlying Alzheimer's disease(AD)for early diagnosis and development of effective *** study was aimed to investigate Alzheimer's dementia using an unsupervised lipid,protein and gene multi-omics integrative ***:A lipidomics dataset comprising 185 AD patients,40 mild cognitive impairment(MCI)individuals and 185 controls,and two proteomics datasets(295 AD,159 MCI and 197 controls)were used for weighted gene CO-expression network analyses(WGCNA).Correlations of modules created within each modality with clinical AD diagnosis,brain atrophy measures and disease progression,as well as their correlations with each other,were *** ontology enrichment analysis was employed to examine the biological processes and molecular and cellular functions of protein modules associated with AD *** species were annotated in the lipid modules associated with AD *** associations between established AD risk loci and the lipid/protein modules that showed high correlation with AD phenotypes were also ***:Five of the 20 identified lipid modules and five of the 17 identified protein modules were correlated with clinical AD diagnosis,brain atrophy measures and disease *** lipid modules comprising phospholipids,triglycerides,sphingolipids and cholesterol esters were correlated with AD risk loci involved in immune response and lipid *** five protein modules involved in positive regulation of cytokine production,neutrophil-mediated immunity,and humoral immune responses were correlated with AD risk loci involved in immune and complement systems and in lipid metabolism(the APOE ε4 genotype).Conclusions:Modules of tightly regulated lipids and proteins,drivers in lipid homeostasis and innate immunity,are strongly associated with AD phenotypes.

关键词： Alzheimer's disease Dementia Brain atrophy sMRI Rate of cognitive decline Lipidomics Proteomics AD risk loci WGCNA

2011第二届亚洲青少年钢琴艺术节暨纪念李斯特诞辰200周年国际青少年钢琴公开赛

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小演奏家 2011年第5期 66-67页

作者： (International Arts Education consortium Limited) 国际艺术教育联盟

艺术简介此次活动是在＂2010第一届亚洲青少年钢琴艺术节暨纪念肖邦诞辰200周年＂活动的基础上发起的,旨在通过开展普及性钢琴艺术活动,以加强同行业之间的交流,以期共同繁荣、发展与提高普遍的钢琴教育及管理水平。

关键词：钢琴教育青少年艺术节诞辰纪念亚洲公开赛李斯特

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杜尔切斯特广场

景观设计 2011年第2期 88-93页

作者： consortium Cardinal Hardy 刘宏阳（翻译）不详 Cormier Aichitectes Paysagistes Inc.

19世纪末，该项目曾是加拿大最富有的社区之一，纪念碑以及周边的宏伟建筑代表着蒙特利尔悠久的历史和丰富的城市肌理。项目位于蒙特利尔市的重要区域．设计旨在重现维多利亚时期这里的风采、加强其与城市社交活动的联系、合理利用这片... 详细信息

19世纪末，该项目曾是加拿大最富有的社区之一，纪念碑以及周边的宏伟建筑代表着蒙特利尔悠久的历史和丰富的城市肌理。项目位于蒙特利尔市的重要区域．设计旨在重现维多利亚时期这里的风采、加强其与城市社交活动的联系、合理利用这片城市绿洲。

关键词：蒙特利尔市广场杜尔城市肌理 19世纪末维多利亚社交活动城市绿洲

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摩西·马布海达体育场,南非德班

建筑技艺(中英文) 2011年第Z2期 84-91页

作者： Ibhola Lethu consortium Marcus Bredt 朱晓琳德国gmp建筑师事务所 Theunissen Jankowitz Architects Ambro Afrique Architects Osmond Lange Architects NSMDesigns Mthulusi Msimang Architects

摩西·马布海达体育场地处印度洋海滨地带,坐落在中央体育公园的高架平台上,通过机场高速与城市相连。从远处遥望可见105m高的的拱形结构犹如里程碑一般升起在体育场上方。体育场的主入口位于1.5km线性体育公园的南端,象征着其在城市中... 详细信息

摩西·马布海达体育场地处印度洋海滨地带,坐落在中央体育公园的高架平台上,通过机场高速与城市相连。从远处遥望可见105m高的的拱形结构犹如里程碑一般升起在体育场上方。体育场的主入口位于1.5km线性体育公园的南端,象征着其在城市中的门户地位,造型由巨大的拱形分叉结合而成。在建筑的北端设置了无轨缆车,可以运送观众达到拱顶的"高空平台"。

关键词：体育场造型摩西德班马布拱形结构实体结构座席屋顶体育公园南非非洲

Reproducible Abnormalities and Diagnostic Generalizability of White Matter in Alzheimer’s Disease

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Neuroscience Bulletin 2023年第10期39卷 1533-1543页

作者： Yida Qu Pan Wang Hongxiang Yao Dawei Wang Chengyuan Song Hongwei Yang Zengqiang Zhang Pindong Chen Xiaopeng Kang Kai Du Lingzhong Fan Bo Zhou Tong Han Chunshui Yu Xi Zhang Nianming Zuo Tianzi Jiang Yuying Zhou Bing Liu Ying Han Jie Lu Yong Liu Multi-Center Alzheimer’s Disease Imaging(MCADI)consortium Brainnetome Center and National Laboratory of Pattern Recognition Institute of AutomationChinese Academy of SciencesBeijing 100190China School of Artificial Intelligence University of Chinese Academy of SciencesBeijing 100049China Department of Neurology Tianjin Huanhu HospitalTianjin UniversityTianjin 300222China Department of Radiology Department of Epidemiology and Health StatisticsSchool of Public HealthQilu Hospital of Shandong UniversityJi’nan 250063China Department of Neurology Qilu Hospital of Shandong UniversityJi’nan 250063China Department of Radiology Xuanwu Hospital of Capital Medical UniversityBeijing 100053China Branch of Chinese PLA General HospitalSanya 572022China Department of Neurology The Second Medical CentreNational Clinical Research Centre for Geriatric DiseasesChinese PLA General HospitalBeijing 100089China Department of Radiology Tianjin Huanhu HospitalTianjin 300222China Department of Radiology Tianjin Medical University General HospitalTianjin 300052China Department of Neurology Xuanwu Hospital of Capital Medical UniversityBeijing 100053China Beijing Institute of Geriatrics Beijing 100053China National Clinical Research Center for Geriatric Disorders Beijing 100053China Center of Alzheimer’s Disease Beijing Institute for Brain DisordersBeijing 100053China State Key Lab of Cognition Neuroscience&Learning Beijing Normal UniversityBeijing 100091China School of Artificial Intelligence Beijing University of Posts and TelecommunicationsBeijing 100876China 不详

Alzheimer’s disease(AD)is associated with the impairment of white matter(WM)*** current study aimed to verify the utility of WM as the neuroimaging marker of AD with multisite diffusion tensor imaging datasets[321 patients with AD,265 patients with mild cognitive impairment(MCI),279 normal controls(NC)],a unified pipeline,and independent site *** fiber quantification was used to extract diffusion profiles along ***-effects meta-analyses showed a reproducible degeneration pattern in which fractional anisotropy significantly decreased in the AD and MCI groups compared with *** learning models using tract-based features showed good generalizability among independent site *** diffusion metrics of the altered regions and the AD probability predicted by the models were highly correlated with cognitive ability in the AD and MCI *** highlighted the reproducibility and generalizability of the degeneration pattern of WM tracts in AD.

关键词： Alzheimer’s disease Diffusion tensor imaging White matter tracts Cross-validation