Special Scientific Procedures Core: Genomics

特殊科学程序核心：基因组学

• 批准号: 8065454
• 负责人: PETER K. GREGERSEN
• 金额: $ 27.95万
• 依托单位: FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-05-01 至 2013-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8065454
• 关键词: Arts; Blood; Cell Line; Clinical Treatment; Clinical assessments; Copy Number Polymorphism; Data; Data Collection; Data Set; Development; Explosion; Genes; Genetic; Genome; Genomics; Genotype; Goals; Haplotypes; Human; Human Genome Project; International; Laboratories; Maintenance; Methods; Modeling; Molecular Genetics; Patients; Phenotype; Play; Procedures; Publications; Publishing; Records; Research Methodology; Research Personnel; Robotics; Role; Sampling; Schizophrenia; Services; Single Nucleotide Polymorphism; Statistical Methods; Techniques; Technology; Work; cognitive neuroscience; density; endophenotype; genome wide association study; genome-wide; high standard; high throughput technology; immortalized cell; new technology; novel; operation; statistical service; treatment response

In the last two years, there has been an explosion of novel technologies for the acquisition and interpretation of genomewide human molecular genetic data, including development of whole genome association (WGA) microarrays and statistical methods, as well as the publication of the HapMap to provide a context for accelerating the analysis and synthesis of such genomics data. Having published the first WGA study of schizophrenia (Lencz et al. 2007), we are cognizant of the technical and statistical complexities involved in applying these novel technologies. Therefore, the Special Scientific Procedures Core: Genomics plays a critical supportive role in the proposed CIDAR. The Genomics Core has three primary aims, necessary to the completion of CIDAR goals: (1) to provide basic laboratory services to CIDAR investigators such as blood draws, DMA extraction, creation of immortalized cell lines, and sample storage; (2) to provide methodological expertise in state-of-the-art genotyping and sequencing platforms, including high-precision QA/QC procedures; and (3) to provide advanced statistical support, including development of new techniques, relevant to this large scale, genomewide data collection. Laboratory services are well-equipped to store, track, and genotype large numbers (thousands) of patient samples rapidly and accurately using high-throughput technologies and robotics. Genotyping platforms include scanners for both Affymetrix microarray chip sets and Illumina Bead Arrays, and can support high density whole genome association studies and comprehensive SNP tagging strategies. In the last 18 months, more than 1 billion genotypes have been generated in our facility, and maintenance of high standards for genotyping QA/QC is a central focus of the Core, resulting in several top-tier publications. Statistical services provide expertise and published track records in critical issues for large genetic datasets, including: data reduction and complexity reduction methods, haplotype estimation and haplotype tagging strategies, gene-gene and genotype-phenotype interactions, and Bayesian and other multivariate modelling techniques. Development of novel methods (such as whole genome homozygosity analysis and analysis of copy number variation) is a priority of the Core. The Genomics Core will work together with both the Operations and Clinical Assessment Core, and the Research Methods Core: Cognitive Neuroscience, to apply genomics to prediction of both clinical treatment response phenotypes and neuroscientific endophenotypes.

在过去的两年中，新的技术爆炸了，以获取和解释 全基因组分子遗传数据，包括整个基因组关联（WGA）的发展 微阵列和统计方法，以及HAPMAP的出版，以提供背景 加速此类基因组学数据的分析和合成。发表了第一项WGA研究 精神分裂症（Lencz等，2007），我们认识到涉及的技术和统计复杂性 应用这些新技术。因此，特殊的科学程序核心：基因组学扮演着 在拟议的CIDAR中的关键支持作用。基因组学核心具有三个主要目标，需要 完成CIDAR目标：（1）向诸如血液等CIDAR调查人员提供基本实验室服务 绘制，DMA提取，永生细胞系的创建和样品存储； （2）提供方法论 最先进的基因分型和测序平台的专业知识，包括高精度QA/QC 程序； （3）提供高级统计支持，包括开发新技术， 与此大规模的，全基因组的数据收集有关。 实验室服务具有良好的存储，跟踪和基因型大量（数千名）患者 使用高通量技术和机器人技术快速，准确地进行样品。基因分型平台 包括Affymetrix微阵列芯片套件和Illumina珠阵列的扫描仪，并且可以支持高 密度整个基因组协会研究和全面的SNP标记策略。在过去的18个 几个月来，我们的设施已经产生了超过10亿个基因型，并维护高 基因分QA/QC的标准是核心的主要重点，导致了几个顶级出版物。 统计服务在大遗传数据集的关键问题中提供了专业知识和已发表的记录， 包括：降低数据和复杂性降低方法，单倍型估计和单倍型标记 策略，基因基因和基因型 - 表型相互作用，以及贝叶斯和其他多元建模 技术。开发新方法（例如整个基因组纯合性分析和分析 拷贝数变化）是核心的优先级。基因组核心将与 操作和临床评估核心以及研究方法核心：认知神经科学， 将基因组学应用于临床治疗反应表型和神经科学的预测 内型型。