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

Johns Hopkins University, Baltimore MD

Investigators

Abstract

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.