Mission and Organization

The National Human Genome Research Institute (NHGRI) supports a broad range of studies aimed at understanding the structure and function of the human genome, including studies of human genetic variation. The NHGRI Sample Repository for Human Genetic Research, established in 2006, serves as an important resource for investigators who conduct these types of studies.

NHGRI led the contribution of the NIH to the International HapMap Project, which developed a haplotype map of the human genome. This haplotype map, called the "HapMap," is a publicly available tool that allows researchers to find genes and genetic variations that affect health and disease. Except for the Utah CEPH samples that were in the NIGMS Repository before the initiation of the HapMap Project and remain there, the NHGRI Repository now houses all of the HapMap samples. The NHGRI repository also houses the extended set of HapMap samples. All of the samples were collected with extensive community engagement, including discussions with members of the donor communities about the ethical and social implications of human genetic variation research. 

The NHGRI repository also houses the samples for the International 1000 Genomes Project. This project includes whole genome sequencing of over 2500 samples and aims to provide a detailed map of human genetic variation, including common and rare SNPs and structural variants. This map will allow more precise localization of genomic regions that contribute to health and disease. The 1000 Genomes Project includes many of the samples from the HapMap Project, as well as samples donated by additional populations. No identifying or phenotypic information is available for the samples. Donors gave broad consent for use of the samples, including for genotyping, sequencing, and cellular phenotype studies. Additional samples may be added to the collection in the future.

The NHGRI Repository distributes high-quality lymphoblastoid cell lines and DNA to researchers. DNA is provided in plates or panels of 70 to 120 samples, or as individual samples. Some of these samples have been used for the ENCODE Project, the HapMap ENCODE Project, the NHGRI structural variation project, and other studies of genetic variation and gene expression variation. NHGRI encourages the use of these samples as standard samples for many types of studies, including those in which data will be deposited in central databases for widespread use by the scientific community, such as dbSNP. 

A Consultation and Oversight Group (COG) has been established to provide recommendations to the NHGRI on policies regarding the use of samples in the repository. The COG has five scientists who are appointed for rotating terms of three/four years (see below). The recommendations would include guidance on proactive policies to deal with potentially sensitive uses of samples, possible additional accessions, technical issues, and other matters brought forward by NHGRI.

Organization and Contact Information