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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.

遗传疾病研究中心（CIDR）跨NIH合作遗传性疾病研究中心（CIDR）代表了NICHD和NHGRI之间的重要合作。自1996年以来，国家卫生研究院各研究所参加了与约翰霍普金斯大学签订的CIDR合同。这项跨NIH的合作由10个IC支持，NHGRI作为牵头IC。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。继续这种合作的一个主要原因是，由于CIDR提供的基因组学数据，对遗传疾病/病症的重要新见解可能会推动研究领域的发展。此外，CIDR产生的数据必须存入dbGaP，以便科学界进一步分析。所有要求通过NIH资助的CIDR项目访问的研究者必须向NIH提交电子申请。 X 01申请持续接受，并由CIDR访问委员会每年评估六次科学价值。CIDR理事会由支持性IC的代表组成，是第二级审查机构，决定哪些项目可以使用CIDR设施。 NICHD支持的项目包括双卵双生、染色体不分离、男性减数分裂重组、ADHD、早产、亚历山大病修饰因子、马蹄内翻足、自闭症和脑部疾病。目前有一个关于“性别焦虑症的遗传性和遗传结构”的项目正在进行中。主题的多样性表明了研究人员的兴趣，这些研究人员得到了NICHD各种科学分支的支持。目前的CIDR合同支持血液DNA的全基因组测序，以鉴定22q11.2缺失综合征的修饰物。