GENOTYPING SERVICES USING GWAS GLOBAL DIVERSITY ARRAY FOR NICHD (HUNT)

使用 GWAS 全球多样性阵列为 NICD 提供基因分型服务（狩猎）

• 批准号: 10937102
• 负责人: Kimberly F Doheny
• 金额: $ 7.43万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-27 至 2025-12-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10937102
• 关键词: Genotype; National Institute of Child Health and Human Development; Services; genome wide association study

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 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. This contract award is to support the Center for Inherited Disease Research (CIDR) project X01HG013384-01, Genetic and Environmental Influences on the Early Events of Female Reproduction, specifically for the whole genome genotyping using the Illumina Global Diversity Array of 275 women and 275 of their electively aborted fetuses. This experiment is for a study to determine whether environmental factors, and specifically endocrine disrupting chemicals (EDCs), lead to meiotic errors resulting in abnormal pregnancies. The PI has justified the use of Human Fetal Tissue from elective abortion for this research. The study will also include measurement of EDCs in plasma.

遗传病研究中心 (CIDR) 跨 NIH 合作 遗传病研究中心 (CIDR) 代表了 NICHD 和 NHGRI 之间的重要合作。 自 1996 年以来，NIH 的研究所参与了与约翰·霍普金斯大学的 CIDR 合同。这项跨 NIH 合作得到 10 个 IC 的支持，其中 NHGRI 担任牵头 IC。 CIDR 向 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，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向前发展。 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必须向 NIH 提交电子申请。 X01 申请不断被接受，并由 CIDR 访问委员会评估其科学价值。 CIDR 理事会由支持 IC 的代表组成，充当第二级审查并确定哪些项目可以使用 CIDR 设施。 该合同授予支持遗传病研究中心 (CIDR) 项目 X01HG013384-01，“遗传和环境对女性生殖早期事件的影响”，特别是使用 Illumina 全球多样性阵列对 275 名女性和 275 名女性进行全基因组基因分型。他们选择性流产的胎儿该实验旨在研究环境因素，特别是内分泌干扰化学物质（EDC）是否会导致减数分裂错误，从而导致异常妊娠。 PI 证明了在本研究中使用选择性堕胎的人类胎儿组织是合理的。 该研究还将包括血浆中 EDC 的测量。