Division of Genome Sciences

Genetic Variation Program

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Genetic Variation Program Overview

Most of any one person's DNA, about 99.5 percent, is exactly the same as any unrelated person's DNA. Differences in the sequence of DNA among individuals are called genetic variation.

Genetic variation explains some of the differences among people, such as eye color and blood group. Genetic variation also plays a role in whether a person has a higher or lower risk for getting particular diseases. Single gene differences in individuals account for some traits and diseases, such as the ABO blood group, cystic fibrosis and sickle cell disease. More complex interrelationships among multiple genes and the environment are responsible for many common diseases, such as diabetes, cancer, stroke, Alzheimer's disease, Parkinson's disease, depression, alcoholism, heart disease, arthritis and asthma. The Genetic Variation program supports research on genetic variation and how it relates to diseases, responses to drugs and environmental factors.

The Genetic Variation Program supports research aimed at:

  • Discovering and typing single nucleotide polymorphisms (SNPs) and other forms of genetic variation on a large scale across the genome.
  • Developing high-resolution maps of genetic variation and haplotypes.
  • Developing methods for the large-scale experimental and statistical analysis of SNPs, other forms of genetic variation, haplotypes and complex traits.
  • Developing statistical methods to relate genetic variation to phenotype.

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Genetic Variation Program Related Information

International HapMap Project

Resource for Discovering DNA Polymorphisms

  • Collins, F.S., L.D. Brooks and A. Chakravarti. A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation. Genome Research, 8: 1229-1231. 1998. [Full Article]

NCBI Database for SNPs, dbSNP [ncbi.nom.nih.gov]

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Genetic Variation Program Meeting Reports

June 5-6, 2012
Workshop on Establishing a Central Resource of Data from Genome Sequencing Projects

August 3-4, 2004
Executive Summary: Workshop on Characterizing Human Genetic Variation

July 18-19, 2001
Developing a Haplotype Map of the Human Genome for Finding Genes Related to Health and Disease

SNP Meeting: June 7-8, 1999
Executive Summary
Full Meeting Summary (further down the page)

March 31-April 1, 1997
Workshop on Human DNA Sequence Variation

December 8-9, 1997
Polymorphism Resource Workshop

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Genetic Variation Program Funding Opportunities

PA-97-044: Technologies for Genomic Mapping, Sequencing and Analysis
This announcement solicits investigator-initiated proposals to develop new technologies.

RFA HG-98-001: Methods for Discovering and Scoring Single Nucleotide Polymorphisms (EXPIRED)
(This expired RFA explains how SNPs related to complex traits and human health and disease, as well as NHGRI's continuing interest in SNP discovery, scoring, and technology development).

NIGMS PA-99-016 [grants2.nih.gov]: Mechanisms Underlying Individual Variations in Drug Responses.

NIGMS PA-98-078 [grants.nih.gov]: Genetic Architecture of Complex Phenotypes.

NIMH RFA MH-98-017 [grants.nih.gov]: Quantitative Methods to Map Genes for Complex Disease (Expired)
(NHGRI is still interested in methods to map complex traits, especially ones that use large-scale SNP data).

Centers of Excellence in Genomic Science (CEGS)

Small Business Funding Opportunities [grants.nih.gov]: Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) program information.

Expired Grant Solicitations

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Genetic Variation Program Staff

Program Directors
Lisa D. Brooks, Ph.D.
E-mail: brooksl@exchange.nih.gov

Jean McEwen, Ph.D.
E-mail: mcewenj@mail.nih.gov

National Human Genome Research Institute
National Institutes of Health
5635 Fishers Lane
Suite 4076, MSC 9305
Bethesda, MD 20892-9305
Phone: (301) 496-7531
Fax: (301) 480-2770

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Last Updated: February 12, 2013