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.

遗传性疾病研究（CIDR）Trans-NIH合作的中心遗传疾病CODR [CIDR]与Johns Hopkins大学一起参加了CIDR合同。 ART基因组学和统计遗传学D整个外显子组测序，全基因组关联研究[GWAS]和甲基化分析。基因组数据的结果，对遗传探索/条件的重要新见解可以增强A的研究。所有要求NIH资助的CIDR计划的调查人员必须向NIH提交电子申请，并根据CIDR Access委员会对六次进行科学功绩。，作为第二级审查和确定，哪些授权被授予访问CIDR面的访问权限。 NICHD支持有关dizygotic twinning，染色体非分离，男性减数分裂重组，术前出生，疾病的修饰，俱乐部，自闭症和脑部疾病的项目。调查人员得到了各种各样的NICHD科学分支的支持。当前的CIDR CIDR合同支持血液DNA中的整个基因组测序，以鉴定22q11.2缺失综合征的修饰符。