Genetics, Genomics and Bioinformatics (Core B)

遗传学、基因组学和生物信息学（核心 B）

• 批准号: 9056016
• 负责人: Giovanni Coppola
• 金额: $ 11.94万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9056016
• 关键词: Animal Model; Base Sequence; Basic Science; Bioinformatics; Biological Assay; Cell Line; Cell model; Center for Translational Science Activities; Clinical; Collaborations; Computerized Medical Record; DNA; Data; Data Analyses; Data Set; Data Storage and Retrieval; Databases; Development; Environment; Epigenetic Process; Experimental Designs; Experimental Models; Explosion; Foundations; Funding; Gene Expression; Gene Expression Profiling; Genes; Genetic; Genome; Genomic approach; Genomics; Genotype; Goals; High Performance Computing; Informatics; Institution; Intellectual functioning disability; Investigation; Laboratories; Lead; Mental Retardation and Developmental Disabilities Research Centers; Methods; Methylation; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; Network-based; Neurodegenerative Disorders; Neurosciences; Online Systems; Pathway Analysis; Patients; Postdoctoral Fellow; Protocols documentation; RNA; Recording of previous events; Research; Research Design; Research Infrastructure; Research Personnel; Resource Informatics; Resources; Solid; Students; Study models; Technology; Tissues; Training; Validation; abstracting; analytical method; autism spectrum disorder; base; cohort; computing resources; data sharing; design; exome sequencing; experimental analysis; genetic approach; genome-wide; genomic data; innovation; meetings; neurodevelopment; neurogenetics; neuroimaging; next generation sequencing; online repository; phenotypic data; research study; single cell analysis; student training; tool; translational study

CORE B: Abstract The Genetics, Genomics, and Informatics Core focuses on the application of genome-level analyses in neuroscientific investigation, both at the sequence (genetic), and gene expression and epigenetic (genomics) levels. The explosion of next-generation sequencing-based methods has made advanced computational expertise and infrastructure needed for all sequencing- based applications. The proposed Core aims at providing support for basic and advanced genetics and genomics experiments in both patient cohorts for translational studies and experimental models for basic research. Modern genetic and genomic approaches, including epigenetics, rely on sequencing technology and require substantial bioinformatics expertise and access to solid computational resources. This core leverages a proven history of expertise, as well as support and collaboration with other investigators in the Coppola and Geschwind groups with regards to computational and informatics resources funded by NIH and private foundations. Based on this proven track record, Core E will provide IDDRC investigators with the necessary expertise and infrastructure to perform high-throughput, genome-wide genetic and genomic studies. State-of- the-art analytical methods being developed within the NINDS-funded UCLA Informatics Center for Neurogenetics and Neurogenomics (ICNN, co-directed by Dr. Coppola) will be used to analyze NGS, gene expression, and methylation data, and the resulting datasets will be posted onto a database accessible to IDDRC investigators, facilitating data sharing and collaborative analyses. Over the past 10 years UCLA computational biologists and statisticians have lead the field of integrative data analysis (Geschwind and Konopka, 2009) and network-based methods [Zhang and Horvath 2005; Oldham et al. 2008; Parikshak et al. 2013]. Expertise in the development and implementation of these methods (including single-cell analysis, network methods, and integrative approaches), will be made directly available to IDDRC investigators.

核心B：摘要 遗传学，基因组学和信息学核心侧重于基因组水平的应用 神经科学研究中的分析，包括序列（遗传）和基因表达 和表观遗传（基因组学）水平。下一代测序方法的激增 使得所有测序都需要先进的计算专业知识和基础设施， 基于应用程序。 拟议的核心项目旨在为基础和高级遗传学和基因组学提供支持 用于转化研究的患者队列实验和用于基础研究的实验模型 research.包括表观遗传学在内的现代遗传学和基因组学方法依赖于测序 技术，并需要大量的生物信息学专业知识和获得坚实的计算 资源这一核心利用了久经考验的专业知识历史，以及支持和 与科波拉和Geschwind小组的其他研究人员合作， 由NIH和私人基金会资助的计算和信息学资源。基于此 核心E将为IDDRC调查人员提供必要的专业知识， 基础设施进行高通量，全基因组遗传和基因组研究。国家 由NINDS资助的加州大学洛杉矶分校信息学中心正在开发的最先进的分析方法 神经遗传学和神经基因组学（ICNN，由科波拉博士共同指导）将用于 分析NGS，基因表达和甲基化数据，并将结果数据集发布 数据库，便于数据共享和协作 分析。在过去的10年里，加州大学洛杉矶分校的计算生物学家和统计学家领导了 综合数据分析领域（Geschwind和Konopka，2009年）和基于网络的方法 [Zhang and Horvath 2005;奥尔德姆et al. 2008; Parikshak et al. 2013]。专门知识 这些方法的开发和实施（包括单细胞分析，网络 方法和综合方法），将直接提供给IDDRC调查人员。