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.


  • Apr 2018

    Effectiveness of Medicine Determined by Human Mutations

    Study suggests altered drug responses may be due to genetic variations in individuals according to research involving G-protein coupled receptors (GPCRs).

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  • Jan 2018

    Researchers Discover 30 Novel Susceptibility Loci for Schizophrenia

    Most reports of schizophrenia genetic risk have focused on individuals of European ancestry. Leveraging the publicly-available 1000 Genomes Project data, this new study expands upon previous work to include a Chinese cohort in a genome-wide association study that identified 30 new genetic risk loci for schizophrenia. 

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  • Nov 2017

    Common Genetic Variant Found for Multiple Vascular Diseases

    Researchers conducting genome-wide studies identify a variant that regulates activity of endothelin-1 (EDN1), a common factor in several vascular diseases.

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