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).

Over 3700 unique cell culturesand DNA samples


  • 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 2018

    Differences in Enzyme GSTT2 May Affect Risk for Esophageal Adenocarcinoma

    Researchers conduct a study to examine why Caucasians are developing esophageal adenocarcinoma at a much higher rate than African Americans. The study suggests a duplication within a portion of the genome may be the cause.

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  • Sep 2018

    Exploring Variants in Rheumatoid Arthritis and Type 1 Diabetes

    Researchers use fine-mapping to focus on small sets of causal variants thought to be associated with rheumatoid arthritis and type 1 diabetes.

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  • Aug 2018

    Researchers Suggest Bipolar Disorder and Schizophrenia Are Results of Evolutionary Change

    Study suggests changes in nucleotide arrays may have affected the function of the CACNA1C gene increasing susceptibility to neuropsychiatric disease.

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