Sample Repository for Human Genetic Research

The NHGRI Sample Repository for Human Genetic Research offers DNA samples and cell lines from the populations that contributed to the International HapMap Consortium, the International HapMap 3 Consortium and the 1000 Genomes Project Consortium. All of the biospecimens were contributed with consent to broad data release and to their use in a wide range of genetic variation research, including studies that involve large-scale genotyping, sequencing, gene expression, epigenomics and proteomics. The samples include no identifying or clinical information, and are high-quality resources for the study of genetic variation in a range of human populations.

The NHGRI Repository houses biospecimens from 27 of the HapMap and 1000 Genomes Project population samples. The CEPH Utah samples are available through the NIGMS Repository.


  • 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 2021

    Investigating inherited risks for heart disease.

    Two recent studies used data from the 1000 Genomes Project to investigate inherited risk for heart disease in children and adults.

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  • Mar 2021

    New Approaches to Polygenic Risk for Complex Disease

    Two recent studies used data from the 1000 Genomes Project to study polygenic risk scores, which use genetic information from many genes across the genome to predict inherited risk of developing common, complex diseases.

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  • Dec 2020

    Variation in genes associated with viral entry of SARS-CoV-2 unlikely to influence COVID-19 morbidity and mortality

    In a study published in the journal Infection, Genetics and Evolution, scientists analyzed genetic variants from publicly available datasets including the 1000 Genomes Project to determine whether differences in genetic variation across populations may account for the observation that certain populations and ethnic groups are disproportionately affected by COVID-19.

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