Center for Common Disease Genetics

常见疾病遗传学中心

基本信息

批准号：
9913613
负责人：
Mark Joseph Daly
金额：
$ 1666.84万
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 2021-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9913613
关键词：
Address African American Alleles Asians Atrial Fibrillation Authorization documentation Biological Budgets Case-Control Studies Clinical Collection Communities Complement Coronary Arteriosclerosis Country DNA Data Disease Electronic Health Record Environmental Risk Factor Epidemiology Epilepsy Estonia European Finland Frequencies Funding Genetic Genetic Diseases Genetic study Genome Genomics Genotype Goals Grant Health system 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 Sample Size Sampling Schizophrenia Shotguns Single-Payer System Source Stroke Systemic disease Testing Time Translating Untranslated RNA autism spectrum disorder base biobank case control comorbidity cost data sharing data tools early onset epidemiology study exome experience follow-up gene discovery genetic approach genetic architecture genomic platform improved insight interest middle age mortality nervous system disorder neuropsychiatric disorder protective allele risk variant whole genome

项目摘要

Project Summary Abstract 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.

项目摘要摘要以我们在全面基因组研究和解决的25年历史记录的基础上建立 NHGRI对此RFA的目标，我们建议创建，应用和测试强大，可靠和测试 “全面”识别风险和保护性变体的一般策略重要的是任何感兴趣的普通疾病。为此，我们将： ·创建一个共同的疾病财团（CDC），该财团汇集了一个协作网络具有深厚临床和遗传专业知识和110万个良好表征的研究人员包括欧洲人，非洲在内的各种人群的样本（案例和对照）美国人，西班牙裔和亚洲人。疾病预防控制中心将在三个主要的下进行遗传研究与：（1）五种全身性疾病有关的项目 - 早发冠状动脉疾病，2型糖尿病，炎症性肠病，房颤和中风；（2）三个严重神经系统疾病 - 自闭症，精神分裂症和癫痫；（3）两个国家有特殊的国家遗传研究的优势 - 芬兰和爱沙尼亚。通过这三个项目，CDC 将探索一系列研究设计，人口遗传策略，遗传体系结构和多样化的人口。使用Broad Institute的专业知识，来自CDC的序列450,000个样品基因组学平台生成高质量数据并降低测序成本。分析序列数据，以阐明疾病的遗传基础从我们的初步研究和开发新方法来增加的艺术方法检测关联的力量。创建，传播和共享数据，工具和资源，以实现科学从CDC和其他来源访问和分析遗传研究的社区。

项目成果

期刊论文数量（9）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

DOI：
10.1002/mgg3.2311
发表时间：
2024-01
期刊：
Molecular genetics & genomic medicine
影响因子：
2
作者：
通讯作者：

What Is Familial Hypercholesterolemia, and Why Does It Matter?

DOI：
10.1161/circulationaha.120.046961
发表时间：
2020-06-02
期刊：
CIRCULATION
影响因子：
37.8
作者：
Khera, Amit V.;Hegele, Robert A.
通讯作者：
Hegele, Robert A.

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms.

DOI：
10.1186/s12864-018-4703-0
发表时间：
2018-05-08
期刊：
BMC genomics
影响因子：
4.4
作者：
Costello M;Fleharty M;Abreu J;Farjoun Y;Ferriera S;Holmes L;Granger B;Green L;Howd T;Mason T;Vicente G;Dasilva M;Brodeur W;DeSmet T;Dodge S;Lennon NJ;Gabriel S
通讯作者：
Gabriel S

CYP2C19 Genotyping in Anticoagulated Patients After Percutaneous Coronary Intervention: Should It Be Routine?