Center for Common Disease Genetics

常见疾病遗传学中心

基本信息

批准号：
9205528
负责人：
Mark Joseph Daly
金额：
$ 1430万
依托单位：
BROAD INSTITUTE, INC.
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-01-14 至 2019-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9205528
关键词：
Address African American Alleles Architecture Asians Atrial Fibrillation Authorization documentation Autistic Disorder Biological Budgets Case-Control Studies Clinical Collection Communities Comorbidity Complement Coronary Arteriosclerosis Country DNA Data Data Quality Disease Electronic Health Record Environmental Risk Factor Epidemiology Epilepsy Estonia European Finland Frequencies Funding Genetic Genetic study Genome Genomics Genotype Goals Grant Health system Hereditary Disease Hispanics Individual Inflammatory Inflammatory Bowel Diseases Institutes Light Link Medical Genetics Metabolic Methods Morbidity - disease rate National Human Genome Research Institute Non-Insulin-Dependent Diabetes Mellitus Participant Patients Penetrance Phenotype Physiological Physiology Population Population Genetics Population Heterogeneity Prevalence Process Recording of previous events Research Design Research Personnel Resources Risk Sample Size Sampling Schizophrenia Shotguns Single-Payer System Source Stroke Systemic disease Testing Time Translating Untranslated RNA Variant base biobank case control cost data sharing early onset epidemiology study exome experience follow-up gene discovery genomic platform improved insight interest middle age mortality nervous system disorder neuropsychiatric disorder permissiveness public health relevance risk variant tool whole genome

项目摘要

DESCRIPTION (provided by applicant): Building on our 25-year track record in comprehensive genomic studies and addressing NHGRI's goal for this RFA, we propose to create, apply and test a powerful, reliable and general strategy for "comprehensive" identification of risk and protective variants that contribute significantly to any common disease of interest. Toward this end, we will: * Create a Common Disease Consortium (CDC) that brings together a collaborative network of investigators with deep clinical and genetic expertise and >1.1 million well-characterized samples (cases and controls) across diverse populations, including Europeans, African Americans, Hispanics and Asians. The CDC will undertake genetic studies under three major projects related to: (1) Five systemic diseases - early-onset coronary artery disease, type 2 diabetes, inflammatory bowel disease, atrial fibrillation, and stroke; (2) Three severe neurological disorders - autism, schizophrenia and epilepsy; and (3) Two countries with special advantages for genetic studies - Finland and Estonia. Through these three projects, the CDC will explore a range of study designs, population-genetic strategies, genetic architectures, and diverse populations. * Sequence 450,000 samples from the CDC, using the expertise of the Broad Institute's genomics platform to generate high quality data and to drive down sequencing costs. Analyze the sequence data to elucidate the genetic basis of the diseases, by applying state- of-the-art methods from in our preliminary studies and developing new methods to increase power to detect association. Create, disseminate and share data, tools, and resources, to enable the scientific community to access and analyze genetic studies from the CDC and other sources.

描述（由适用提供）：基于我们在全面的基因组研究中的25年往绩并解决NHGRI对此RFA的目标，我们建议创建，应用和测试一种强大，可靠和一般的策略，以“全面”“全面”识别风险和保护性变体，从而对任何普遍疾病产生重大贡献。为此，我们将： *创建一个共同的疾病财团（CDC），该联盟（CDC）汇集了具有深厚临床和遗传专业知识的研究人员的协作网络，以及跨越包括欧洲人，非洲裔美国人，西班牙裔和亚洲人在内的不同种群中的临床和遗传专业知识（案例和对照组）> 110万个良好的样本（情况和对照）。疾病预防控制中心将在与以下三个主要项目下进行遗传研究：（1）五种全身性疾病 - 早发冠状动脉疾病，2型糖尿病，炎症性肠病，心房颤动和中风；（2）三种严重的神经系统疾病 - 自闭症，精神分裂症和癫痫；（3）两个国家在遗传研究方面具有特殊优势 - 芬兰和爱沙尼亚。通过这三个项目，疾病预防控制中心将探索一系列研究设计，人口遗传策略，遗传体系结构和大型种群。 *使用Broad Institute的基因组平台的专业知识来生成高质量的数据并降低测序成本， *从CDC序列450,000个样本。分析序列数据以阐明疾病的遗传基础，通过在我们的初步研究中应用最新方法，并开发新方法以增加检测关联的能力。创建，传播和共享数据，工具和资源，以使科学界能够从CDC和其他来源访问和分析遗传研究。