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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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The EISCAT3D Project:Plans for the coming year

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The EISCAT3D Project:Plans for the coming year

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

第15届欧洲非相干散射雷达国际会议

作者： Ian McCrea on behalf of the EISCAT_3D project consortium STFC Rutherford Appleton Laboratory

The Preparatory Phase project for EISCATD,funded by EU FP7,is now almost one year into its fouryear *** coming year will see some major challenges,with important progress needing to the made on each of the logistical,...

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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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转移性前列腺癌化疗中国专家共识(2019版)

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中华泌尿外科杂志 2019年第10期40卷 721-725页

作者：无孙颖浩中华医学会泌尿外科学分会中国前列腺癌联盟不详

前列腺癌是男性泌尿生殖系统最常见的恶性肿瘤,发病率高居美国男性恶性肿瘤首位,病死率居第3位。我国前列腺癌发病率虽远低于欧美国家,但随着人口老龄化和生活方式的改变,发病率呈显著上升趋势;此外,我国前列腺特异性抗原(PSA)筛查尚未... 详细信息

前列腺癌是男性泌尿生殖系统最常见的恶性肿瘤,发病率高居美国男性恶性肿瘤首位,病死率居第3位。我国前列腺癌发病率虽远低于欧美国家,但随着人口老龄化和生活方式的改变,发病率呈显著上升趋势;此外,我国前列腺特异性抗原(PSA)筛查尚未普及,高危进展性前列腺癌及转移性前列腺癌(metastatic prostate cancer,mPC)患者所占比例较高。从疾病发展进程上来看,mPC患者初始治疗对于雄激素剥夺治疗(androgen deprivation therapy,ADT)大多有效,属于转移性激素敏感性前列腺癌(metastatic hormone sensitive prostate cancer,mHSPC),但随着疾病进一步进展,多数将转变为转移性去势抵抗性前列腺癌(metastatic castration resistant prostate cancer,mCRPC),而mCRPC是前列腺癌的主要死亡原因。

关键词：转移性前列腺癌男性泌尿生殖系统前列腺特异性抗原专家中国化疗恶性肿瘤欧美国家

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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

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亚历山大图书馆

景观设计 2005年第U4期 16-20页

作者： SnФhetta Hamza consortium 杨鹏鲲（译）唐建（审）

这一85000m^2大小的图书馆建筑占地面积较大．位于该历史城市中心古老的亚历山大港口旁边。图书馆共有11层，它可以同时容纳400万册藏书，在不久的将来通过使用压缩藏书方式．这个数目有望达到800万册。

关键词：图书馆建筑历山城市中心占地面积藏书