Laboratory, Data Analysis and Coordinating Center (LDACC)

实验室、数据分析和协调中心（LDACC）

• 批准号: 8174196
• 金额: $ 1145.63万
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-07-30 至 2013-01-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8174196
• 关键词: Affect; Asthma; Autopsy; Benchmarking; Clinical Data; Communities; Consultations; DNA; Data; Data Analyses; Databases; Diabetes Mellitus; Equipment and supply inventories; Gene Expression; Gene Expression Profile; Gene Expression Regulation; Genes; Genetic Transcription; Genetic Variation; Genome; Genotype; Goals; Heart Diseases; Housing; Human; Human Identifications; Individual; Institutes; Laboratories; Life; Malignant Neoplasms; Mutation; Nucleic Acids; Open Reading Frames; Operative Surgical Procedures; Organ Transplantation; Patients; Performance; Phase; Quantitative Trait Loci; RNA; Research; Research Support; Resources; Sampling; Statistical Methods; Stroke; System; Testing; Tissue Banks; Tissue Donors; Tissue Sample; Tissues; Transformed Cell Line; Variant; base; cost; ethical legal social implication; genetic analysis; genome wide association study; human disease; human tissue; method development; next generation; repository; scale up; tool; trait

The Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project will collect and analyze multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs. Despite the rapid progress achieved using genome-wide association studies to identify genetic changes associated with common human diseases, such as heart disease, cancer, diabetes, asthma, and stroke, a large majority of these genetic changes lies outside of the protein-coding regions of genes and often even outside of the genes themselves, making it difficult to discern which genes are affected and by what mechanism. The comprehensive identification of human eQTLs will greatly help to identify genes whose expression is affected by genetic variation, and will provide a valuable basis on which to study the mechanism of that gene regulation. The GTEx project is a 2.5 to 3 year pilot with the primary goal of testing the feasibility of collecting high-quality RNA and DNA from multiple tissues from approximately 160 donors identified through low post-mortem interval autopsy or organ transplant settings. For a small subset of tissues, collection from living surgery patients will also be performed to compare to the autopsy-derived tissues. If the pilot phase proves successful, the project will be scaled up to involve approximately 1000 donors. The project will also involve consultation and research into the ethical, legal and social issues raised by the research, support for statistical methods development, and creation of a database to house existing and GTEx-generated eQTL data. The database will allow users to view and download computed eQTL results and provide a controlled access system for de-identified individual-level genotype, expression, and clinical data. The associated tissue repository will also serve as a resource for many additional kinds of analyses.

基因型 - 组织表达（GTEX）项目旨在为科学界提供一种研究人类基因表达和调节及其与遗传变异的关系的资源。该项目将收集和分析也是密集基因分型的供体的多个人体组织，以评估其基因组内的遗传变异。通过分析单个组织中的全局RNA表达并将基因的表达水平视为定量性状，可以将基因表达与遗传变异高度相关的基因表达变化被鉴定为表达定量性状基因座或EQTL。 尽管使用全基因组关联研究取得了迅速的进步，以鉴定与常见人类疾病相关的遗传变化，例如心脏病，癌症，糖尿病，哮喘和中风，但这些遗传变化中的大部分大多数都在于基因的蛋白质编码区域之外，甚至在基因本身以外，也很难辨别出哪些基因以及哪些基因与哪些基因相关。人类EQTL的全面鉴定将极大地有助于鉴定其表达受遗传变异影响的基因，并将为研究该基因调节的机制提供宝贵的基础。 GTEX项目是一个2.5至3年的飞行员，其主要目标是测试从大约160个供体通过低年度后尸检或器官移植设置鉴定出的大约160个捐助者的高质量RNA和DNA的可行性。对于一小部分组织，还将进行生活手术患者的收集，以与尸检衍生的组织进行比较。如果飞行员阶段证明成功，则该项目将扩大到大约1000个捐助者。 该项目还将涉及研究研究所提出的道德，法律和社会问题，对统计方法开发的支持以及创建数据库以容纳现有和GTEX生成的EQTL数据的数据库。该数据库将允许用户查看和下载计算的EQTL结果，并为取消识别的个人级基因型，表达和临床数据提供受控的访问系统。相关的组织存储库还将作为许多其他分析的资源。