Genomic Acquisition and Analysis (GAA)

摘要：GAP堆芯 遗传学研究已经提供了明确的证据，几乎所有在生物医学研究中研究的人类特征， 包括疾病易感性、治疗反应、复发和副作用，受遗传因素的影响 化妆。因此，将遗传信息纳入医学研究和实践中是至关重要的 实现最佳结果。由于遗传信息是在基因组DNA中编码的，为了理解遗传 疾病或特征的结构，或者要剖析一个人的基因构成，我们必须进行DNA 该个体的基因组测序。在这款专注于Cobre的个性化医疗应用中，我们 打算整合和传播遗传和基因组数据，并将其应用于个性化健康问题 由个别项目提出。基因组分析和测序流水线(GAP)核心被设计为 通过提供DNA/RNA测序、数据集成、传播和 分析。由于生物信息学和生物统计学已成为基因组和遗传学的关键组成部分 除了研究，核心还将提供专业知识和服务，以支持每个项目实现其目标。这个 核心的具体目标是： 1.进行基因组实验，以获取每个单独项目所需的数据。这些 实验可以是外显子组/全基因组的测序，也可以是基因组的丰富部分 (甲基化或靶基因/途径)、特定遗传变异的基因分型或基因图谱 表情。 2.为个别项目提供生物信息学支持。这项服务包括数据质量控制、 建立分析和注释管道，并生成可供分析的数据集 下游分析。 3.为个别项目提供基因分析服务。这些服务包括身份识别、 遗传变异的注释和表征、遗传风险评估和遗传关联 分析。 4.协助和协调个别项目所需的其他组学服务。项目3将分析 血样中的蛋白质成分和代谢物。我们在这方面没有足够的资源 Cobre进行这些蛋白质组学和代谢组学分析。其他项目和试点研究可能 还需要其他组学服务。因此，我们建议与项目负责人协调，并 帮助他们为这些服务找到合适的供应商。

ABSTRACT: GASP CORE Genetic studies have provided clear evidence that virtually all human traits studied in biomedical research, including disease susceptibility, treatment responses, relapses and side effects, are influenced by genetic makeup. It is, therefore, essential to incorporate genetic information in medical research and practice to achieve optimal outcome. As genetic information is encoded in genomic DNA, to understand the genetic architecture of a disease or trait, or to dissect the genetic makeup of an individual, we have to conduct DNA sequencing of the genome of that individual. In this personalized medicine focused COBRE application, we intend to integrate and disseminate genetic and genomic data, and apply them to personalize health issues proposed by individual projects. The genome analysis and sequencing pipeline (GASP) core is designed to support individual projects by providing services for DNA/RNA sequencing, data integration, dissemination and analyses. Since bioinformatics and biostatistics have become a critical component in genomic and genetic studies, the core will also provide expertise and services to support each project to accomplish its goals. The specific aims of the core are: 1. To conduct genomic experiments to acquire data required by each individual project. These experiments could be the sequencing of exome/whole genome, or enriched portion of genome (methylation or targeted genes/pathways), genotyping of specified genetic variants or profiling of gene expression. 2. To provide bioinformatics support for individual projects. This service includes data quality control, the establishment of analytic and annotation pipelines and the generation of analysis-ready data sets for downstream analyses. 3. To provide genetic analysis service to individual projects. These services include the identification, annotation and characterization of genetic variants, evaluation of genetic risks, and genetic association analyses. 4. To assist and coordinate other omics services required by individual projects. Project 3 will analyze blood samples for protein components and metabolites. We do not have sufficient resource in this COBRE to conduct these proteomics and metabolomics analyses. Other projects and pilot studies may need other omics services as well. Therefore, we propose to coordinate with the project leaders and help them to find appropriate vendors for these services.