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.


  • Sep 2018

    Variation in Progesterone Receptor Gene May Reduce Risk for Premature Birth

    Scientists used data from the 1000 Genomes project to study variations of the progesterone receptor gene and discovered a specific variation found in East Asian populations that appears to reduce the risk of premature birth.

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  • May 2018

    Researchers find epigenetic variations may contribute to unexplained neurodevelopmental disorders

    Researchers confirm, with RNAseq analysis, regions significantly rich in novel epivariations often impact gene expression, comparable to loss-of-function mutations. These epivariations may contribute to the pathogenesis of some patients with unexplained neurodevelopmental and/or other congenital anomalies.

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  • Apr 2018

    Link to Austism Risk Found in Rare Non-Coding Regions of Paternal Genes

    Researchers found rare inherited structural variants in non-coding regions predispose children to Autism Spectrum Disorder (ASD).

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