Special Scientific Procedures Core: Genomics

在过去的两年里，出现了用于获取和解释的新技术的爆炸性增长 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，以提供 加快此类基因组数据的分析和综合。发表了第一份WGA研究报告 精神分裂症(Lencz等人)2007)，我们认识到在技术和统计方面的复杂性 应用这些新技术。因此，特别科学程序核心：基因组学发挥着 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，对 完成CIDAR目标：(1)向CIDAR调查人员提供基本的实验室服务，如血液 绘制、DMA提取、永生化细胞系的创建和样本存储；(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，包括高精度的QA/QC 程序；和(3)提供先进的统计支持，包括开发新技术， 与这种大规模的、全基因组的数据收集相关。 实验室服务设备齐全，可以存储、跟踪大量(数千)患者并对其进行基因分型 使用高通量技术和机器人技术快速准确地采样。基因分型平台 包括用于Affymetrix微阵列芯片组和Illumina珠子阵列扫描仪，且可以支持高 密度全基因组关联研究和综合SNP标签策略。在过去的18年里 几个月来，我们的设施已经产生了超过10亿个基因型，并且维持了很高的 基因分型QA/QC的标准是核心的中心焦点，导致了几个顶级出版物的出版。 统计服务在大型基因数据集的关键问题上提供专业知识和已公布的跟踪记录， 包括：数据归约和复杂性归约方法、单倍型估计和单倍型标注 策略，基因-基因和基因-表型交互作用，以及贝叶斯和其他多变量模型 技巧。新方法的发展(如全基因组纯合性分析和 拷贝数变化)是核心的优先事项。基因组学核心将与这两个 操作和临床评估核心，研究方法核心：认知神经科学 基因组学在临床治疗反应表型和神经科学预测中的应用 内表型。

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.