Center for Genotyping and Analysis

NCRR's Center for Genotyping and Analysis is the first national center for high-throughput genotyping dedicated solely to large-scale SNP (single nucleotide polymorphism) analysis. Located at the Eli and Edythe L. Broad Institute of MIT and Harvard University in Cambridge, Massachusetts, the Center serves as a high-capacity resource so that U.S. researchers can quickly and cost-effectively carry out large-scale studies of genetic variation in humans and animals to advance disease gene identification.

Research on genetic variation is aimed at improving the diagnosis and treatment of numerous diseases of humans that may have significant genetic components—such as Type 1 diabetes, schizophrenia, and some types of cancer—by identifying specific genetic markers, or genotypes, that are associated with particular diseases or responses to drug therapies. Studies examining genetic variation in animals such as mice and rats can identify genetic regions that, in humans, may contribute to complex diseases such as diabetes and hypertension.

Many diseases can be traced to inherited differences in each individual's genes. The most common type of variation in the human genome is the single nucleotide polymorphism, or SNP (pronounced "snip"). A SNP is a single DNA base pair, or unit of DNA, the sequence of which can vary from individual to individual. It is estimated that there are at least 10 million SNPs in the human population, although no two individuals will vary at every such position. Scientists have found that certain SNP combinations are associated with predisposition to particular diseases or adverse drug reactions.

The Center offers tools to aid in the selection, discovery, and analysis of SNPs by providing broad access to flexible, accurate, and affordable genotyping and sequencing. Integrated computational tools help researchers to manage large, well-characterized collections of patient data and design experiments using secure informatics tools for sample management.

An integrated SNP selection tool enables researchers to automate queries and create SNP panels. A secure, Web-based environment provides access to a database linked to an in-house DNA repository, and all samples will be coded to assure subject confidentiality. Results are accessible to the investigators through a secure database integrated with a suite of data management and analytic tools for analysis of correlations among variants and with disease phenotypes.

Because investigators use different technologies based on the scales and configurations needed, a menu of services is offered using three different technology platforms. At full operating capacity, the Center is able to process from 200 million to several billion genotypes per year, depending on the technology platform used and the needs of outside users.

Contact Information

For information regarding access to laboratory and analytic resources for SNP genotyping, please visit the Center for Genotyping and Analysis Web site.

For further information, contact:

Anthony R. Hayward, M.D., Ph.D.
Director
Division of Clinical Research Resources
National Center for Research Resources
National Institutes of Health
One Democracy Plaza, Room 906
6701 Democracy Boulevard, MSC 4874
Bethesda, Maryland 20892-4874 (20817 for express mail)
Telephone: 301-435-0790
Fax: 301-480-3661
HaywardA@mail.nih.gov