DNA Polymorphism Discovery Resource

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


A DNA Polymorphism Discovery Resource

The DNA Polymorphism Discovery Resource is a resource of DNA samples and cell lines from 450 U.S. residents that can be used to discover DNA sequence polymorphisms.

Purpose

Genetic factors appear to contribute to virtually every human disease. Most common diseases are influenced by multiple genes and environmental factors. A dense map of DNA sequence variants should allow the identification of alleles associated with disease, even for these complex diseases. Information about DNA sequence variation will have a wide range of applications for analyzing disease and developing diagnostic, therapeutic and preventative strategies.

The purpose of this resource is to facilitate the discovery of large numbers of sequence variants in human DNA. To that end, the resource includes samples representative of the genetic diversity found in the U.S. population. This resource is not intended to contain within it sufficient information to allow the study of how the variation relates to disease or other phenotypes. The variants found by use of this resource can be used subsequently by researchers to study how the variation relates to disease and health in projects aimed specifically at particular diseases or traits.

Samples

The resource includes cell lines and DNA from 450 diverse, unrelated individuals. In addition to the complete set, there are predefined subsets with 8, 24, 44, and 90 samples. Each subset contains the smaller subsets and includes the same range of diversity as the full set. In the full set and the subsets, half the samples are from females and half are from males.

Informed Consent and Anonymity

All samples came from individuals who provided informed consent to be part of this DNA Polymorphism Discovery Resource. Information on geographic origin and gender was collected for each individual in order to assemble the DNA Polymorphism Discovery Resource, but all identifying and phenotypic information has been removed from the individual samples so that links to individual donors are irreversibly broken.

Geographic Origin

To maximize the chances of discovering common DNA sequence polymorphisms, the individuals sampled are U.S. residents who have ancestors from one or more major geographic regions of the world: Europe, Africa, the Americas and Asia. The table below shows the number of individuals of each group. Researchers who wish to use the DNA Polymorphism Discovery Resource or the database are required to agree to not try to identify the ethnicity of the samples when they obtain them or access the information in the database.

Number of Individuals in the DNA Polymorphism Discovery Resource
Population Group Full set Subsets
European-American 120 2 6 11 23
African-American 120 2 6 11 23
Mexican-American 60 1 2 6 11
Native-American 30 1 3 5 11
Asian-American 120 2 6 11 22
Total Individuals 450 8 24 44 90

Repository

The samples are deposited with the Coriell Institute for Medical Research as part of the National Institute of General Medical Sciences Human Genetic Cell Repository [ccr.coriell.org]. The National Human Genome Research Institute (NHGRI), in consultation with the Office for Protection from Research Risks, considers the material in the DNA Polymorphism Discovery Resource to be in the category of human subjects, for which exemption 4, use of anonymous samples, should apply. All use of material in the DNA Polymorphism Discovery Resource must be reviewed by an IRB and approved or designated as exempt.

Database

The National Center for Biotechnology Information (NCBI) of the National Institutes of Health (NIH) has a database, dbSNP [ncbi.nlm.nih.gov], which can receive information on all single nucleotide polymorphism (SNP) variants found for each sample. Since the samples are anonymous, each sample will be referenced only by a unique sample number. Researchers are encouraged to submit all SNP information to this database.

Additional Information

On the DNA Polymorphism Discovery Resource:

Collins, F.S., L.D. Brooks, and A. Chakravarti. A DNA polymorphism discovery resource for research on human genetic variation. Genome Research, 8(12): 1229-1231. 1998. [Full Text]

On NHGRI's interest in SNPs and the technology to discover and score them:

Collins, F.S., M.S. Guyer, and A. Chakravarti. Variations on a theme: cataloging human DNA sequence variation. Science, 278: 1580-1581. 1997. [PubMed]

RFA HG-98-001 (expired): Methods for Discovering and Scoring Single Nucleotide Polymorphisms.

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Last Updated: May 23, 2012