Special Scientific Procedures Core: Genomics

特殊科学程序核心：基因组学

• 批准号: 7497772
• 负责人: PETER K. GREGERSEN
• 金额: $ 23.46万
• 依托单位: FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-05-09 至 2013-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7497772
• 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; Numbers; Operative Surgical Procedures; Patients; Phenotype; Play; Procedures; Publications; Publishing; Records; Research Methodology; Research Personnel; Robotics; Role; Sampling; Schizophrenia; Services; Single Nucleotide Polymorphism; Standards of Weights and Measures; Statistical Methods; Techniques; Technology; Work; cognitive neuroscience; density; endophenotype; genome wide association study; high throughput technology; immortalized cell; new technology; novel; response; statistical service

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.

在过去的两年里，有一个爆炸性的新技术的采集和解释， 全基因组人类分子遗传数据，包括全基因组关联（WGA）的发展 微阵列和统计方法，以及HapMap的出版，为 加速对这些基因组学数据的分析和合成。发表了第一份WGA研究报告， 精神分裂症（Lencz et al. 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，特殊科学程序核心：基因组学发挥着重要作用。 在拟议的CIDAR中发挥关键的支持作用。基因组学核心有三个主要目标， 完成CIDAR的目标：（1）为CIDAR调查人员提供基本的实验室服务，如血液 抽取、DMA提取、永生化细胞系的创建和样品储存;（2）提供方法学 在最先进的基因分型和测序平台方面的专业知识，包括高精度QA/QC （3）提供先进的统计支持，包括开发新技术， 与这个大规模的全基因组数据收集有关。 实验室服务设备齐全，可以存储、跟踪和对大量（数千）患者进行基因分型 使用高通量技术和机器人技术快速准确地进行样品分析。基因分型平台 包括用于Affymbre微阵列芯片组和Illumina珠阵列扫描仪，并可支持更高的 高密度全基因组关联研究和全面的SNP标记策略。在过去18 几个月来，我们的设施已经产生了超过10亿个基因型，并保持了很高的产量。 基因分型QA/QC标准是核心的中心焦点，导致了几个顶级出版物。 统计服务为大型遗传数据集的关键问题提供专业知识和已发表的跟踪记录， 包括：数据简化和复杂性降低方法，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变量建模 技术.新方法的开发（如全基因组纯合性分析和 拷贝数变异）是核心的优先事项。基因组学核心将与 操作和临床评估核心，以及研究方法核心：认知神经科学， 应用基因组学预测临床治疗反应表型和神经科学 内表型