CIDR – IDENTIFICATION OF MODIFIERS OF 22Q11.2 DELETION SYNDROME BY WHOLE GENOME SEQUENCING IN BLOOD DNA (MORROW)

CIDR — 通过血液 DNA 中的全基因组测序鉴定 22Q11.2 缺失综合征的修饰因子（明天）

基本信息

批准号：
10709067
负责人：
KIM DOHENY
金额：
$ 38.8万
依托单位：
JOHNS HOPKINS UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-09-20 至 2023-12-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10709067
关键词：
Alexander Disease Biological Blood Brain Diseases Charge Chromosomes Collaborations Communities Congenital clubfoot Consult Consultations Custom DNA Data Data Analyses Data Set Deposition DiGeorge Syndrome Disease Dizygotic Twins Failure Funding Genes Genetic Genetic Diseases Genetic Nondisjunction Genetic Services Genomics Genotype Goals Grant Health Hereditary Disease Heritability Human Human Resources Individual Institutes Laboratories Lead Meiotic Recombination Methodology Methylation Modification National Human Genome Research Institute National Institute of Child Health and Human Development Nature Policies Premature Birth Preparation Quality Control Research Research Contracts Research Design Research Personnel SNP genotyping Sampling Services Statistical Data Interpretation Study Section Support Contracts Time United States National Institutes of Health Universities Washington autism spectrum disorder computerized data processing cost effective data sharing database of Genotypes and Phenotypes exome sequencing gender dysphoria genetic architecture genome sequencing genome wide association study genomic data insight interest male new technology programs research facility statistics technology development whole genome

项目摘要

Center for Inherited Disease Research (CIDR) Trans-NIH Collaboration The Center for Inherited Disease Research [CIDR] represents an important collaboration between NICHD and NHGRI. Since 1996, Institutes of the NIH have participated in the CIDR contract with the Johns Hopkins University. This trans-NIH collaboration is supported by 10 ICs, with NHGRI serving as the lead IC. CIDR provides to NIH-supported grantees state-of-the-art genomics and statistical genetics services, including whole genome and whole exome sequencing, genome-wide association studies [GWAS] and methylation analysis. In addition to providing outstanding genomics services, CIDR also consults on study design and statistical analysis to NIH grantees. A prime reason for continuing this collaboration is that, as a result of the genomics data provided by CIDR, important new insights into genetic diseases/conditions can potentially move a field of research forward. In addition, the data produced by CIDR is required to be deposited in dbGaP so that the data will be available for further analysis by the scientific community at large. All investigators requesting access through the NIH-funded CIDR Program must submit an electronic application to NIH. X01 applications are continuously accepted and are evaluated for scientific merit six times per year by the CIDR Access Committee. The CIDR Board of Governors, which is made up of representatives from the supporting ICs, serves as the second level of review and determines which projects are granted access to the CIDR facility. NICHD has supported projects on dizygotic twinning, chromosome nondisjunction, male meiotic recombination, ADHA, pre-term birth, modifiers of Alexander Disease, clubfoot, autism, and brain diseases. There is currently a pending project on “The heritability and genetic architecture of gender dysphoria.” The diversity of topics shows the interest of investigators supported by a wide variety of NICHD’s scientific Branches. The current CIDR contract supports whole genome sequencing in blood DNA for identification of modifiers of 22q11.2 deletion syndrome.

遗传病研究中心 (CIDR) 跨 NIH 合作遗传疾病研究中心 [CIDR] 代表了 NICHD 和 NHGRI 之间的重要合作，自 1996 年以来，NIH 的各个研究所都参与了与约翰霍普金斯大学的 CIDR 合同，这项跨 NIH 的合作得到了 NHGRI 的 10 个 IC 的支持。 CIDR 为 NIH 支持的受资助者提供最先进的基因组学和统计遗传学服务，包括全基因组和全外显子组测序、全基因组关联研究。 [GWAS] 和甲基化分析除了提供出色的基因组学服务外，CIDR 还为 NIH 受资助者提供研究设计和统计分析方面的咨询，继续这种合作的主要原因是 CIDR 提供的基因组学数据非常重要。对遗传疾病/病症的新见解可能会推动一个研究领域的发展。此外，CIDR 产生的数据需要存储在 dbGaP 中，以便整个科学界可以进一步分析这些数据。所有请求通过 NIH 资助的 CIDR 计划访问的研究人员都必须向 NIH 提交电子申请，CIDR 访问委员会每年都会持续接受 X01 申请并对其科学价值进行六次评估。由支持 IC 的代表组成，作为第二级审核，并确定哪些项目被授予使用 CIDR 设施的权限。 NICHD 支持的项目涉及双卵双胞胎、染色体不分离、雄性减数分裂重组、ADHA、早产、亚历山大病修饰、马蹄内翻足、自闭症和脑部疾病，目前有一个待定项目“性别的遗传性和遗传结构”。主题的多样性表明了 NICHD 各个科学部门支持的研究人员的兴趣。目前的 CIDR 合同支持血液 DNA 中的全基因组测序，以识别 22q11.2 缺失综合征的修饰因子。