Genetic Variation Program

National Human Genome Research Institute

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


Genetic Variation Program

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Genetic Variation Program Overview

About 99.5 percent of a person's DNA is 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, as well as whether a person has a higher or lower risk for getting particular diseases. Variants in single genes cause some traits and diseases, such as the ABO blood group and cystic fibrosis.  Complex interactions among multiple genes and the environment cause common diseases such as diabetes, heart disease, many cancers, stroke, Alzheimer's disease, Parkinson's disease, depression, arthritis, and asthma.

Currently, about 99 percent of variants with a frequency of 1 percent or higher have been found, with a false detection rate of 5 percent.  About 96 percent of the genome can be studied with high confidence.  More than 80 million variant sites in the genome have been found so far, including single nucleotide polymorphisms (SNPs), insertions and deletions (indels), and other structural variants; these variants have been put onto haplotypes (phased), showing which variants at nearby sites are on the same chromosome.  The program also seeks to relate there genetic variants to functional variation and phenotype.

The Genetic Variation Program supports large-scale studies of human genetic variation as part of projects such as the International HapMap Project and the 1000 Genomes Project.  The program supports many studies developing data analysis methods for how to relate variation to traits, diseases, and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns of variation to infer demographic history, selection, and other population genetic processes.  The program also works with other programs to support experimental and analysis development studies and databases relating variation to differences in gene function and regulation and to clinical effects. 

The Genetic Variation Program supports research aimed at:

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Information Related to the Genetic Variation Program

1000 Genomes: A Deep Catalog of Human Genetic Variation

An integrated map of genetic variation from 1,092 human genomes. 1000 Genomes Project Consortium (2012). Nature 491:56-65.

International HapMap Project

A haplotype map of the human genome. The International HapMap Consortium (2005). Nature 437: 1299-1320.

Databases for Variants:

NCBI:

Other:

The NHGRI Large-Scale Sequencing Program

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Meeting Reports Related to the Genetic Variation Program

July 28-29, 2014: Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National Human Genome Research Institute

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

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Genetic Variation Program Funding Opportunities

RFA-HG-13-013 [grants.nih.gov]: Interpreting Variation in Human Non-Coding Genomic Regions Using Computational Approaches and Experimental Assessment (R01)
Application Receipt Date(s): January 21, 2014 and January 21, 2015
Expiration Date: January 22, 2015

PA-13-303 [grants.nih.gov]: NIH Exploratory/Developmental Research Grant Program (Parent R21)
NIH Exploratory/Developmental Research Grant Program (Parent R21)
Release Date: August 2, 2013
Expiration Date: September 8, 2016

PAR-14-191 [grants.nih.gov]: Genomic Resource Grants for Community Resource Projects (U41)
Application Receipt Date(s): June 30, 2014; September 25, 2014; January 25, 2015; May 25, 2015; September 25, 2015; January 25, 2016; May 25, 2016; September 25, 2016; January 25, 2017
Expiration Date: January 26, 2017

Centers of Excellence in Genomic Science (CEGS):

Expired Grant Solicitations:

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Genetic Variation Program Staff

Program Directors

Lisa D. Brooks, Ph.D.
E-mail: lisa.brooks@nih.gov

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

Program Analyst

Yekaterina Vaydylevich, B.A.
Email: VaydylevichY@mail.nih.gov

Address
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: January 15, 2015