Sample Repository for Human Genetic Research

The NHGRI Sample Repository for Human Genetic Research offers DNA samples and cell lines from the populations used for the International HapMap Project, the HapMap 3 Project and the 1000 Genomes Project. All of the samples were contributed with consent to broad data release and to their use in many future studies, including for extensive genotyping and sequencing, gene expression and proteomics studies, and all other types of genetic variation research. The samples include no identifying or phenotypic information, and are high-quality resources for the study of genetic variation in a range of human populations.

The map above represents all 28 populations in both the HapMap and 1000 Genomes Projects.  The NHGRI Repository houses samples from 27 of these populations.  The CEPH Utah samples are available through the NIGMS Repository (https://catalog.coriell.org/1/NIGMS).


  • The International Genome Sample Resource has released a new data portal that makes it easier to search and browse the 1000 Genomes Project data.


  • Dec 2016

    Genome-wide Association Studies of Autoimmune Vitiligo Identify 23 New Risk loci and Highlight Key Pathways and Regulatory Variants

    Scrientists use data from 1000 Genomes samples to identify 23 new genes associated with vitiligo.

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  • Dec 2016

    Discovery and Refinement of Genetic loci Associated with Cardiometabolic Risk Using Dense Imputation Maps

    Imputation panel data generated from 1000 Genomes samples helps researchers identify 16 new genetic risk variants associated with various cardiometabolic and hematological traits.

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  • Sep 2016

    Data Generated from HapMap and 1000 Genomes Samples Identifies Cause for Genetic Misdiagnoses

    Using publicly available data, including data generated from samples collected for the International HapMap and 1000 Genomes Projects, researchers have identified genetic variants previously thought to cause hypertrophic cardiomyopathy that are overrepresented in the general population, but lead to misdiagnoses in some underrepresented populations.

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