The Polymorphism Discovery Resource has been closed, and these samples are no longer available. Researchers who wish to use well-studied samples as experimental controls are encouraged to use other samples available in the NIGMS Human Genetic Cell Repository. The NIGMS Repository contains several collections with a number of well-characterized samples commonly used as benchmarks and standards. These include the CEPH, Personal Genome Project, GeT-RM, and NIST Reference Materials collections. Commonly used reference samples in the NIGMS Repository include:
NA24385 – Personal Genome Project
The NHGRI Sample Repository for Human Genetic Research also contains samples from the 1000 Genomes Project (more information on the 1000 Genomes Project can be found here: https://www.internationalgenome.org/). This collection includes 2504 samples from 26 populations around the world. These samples are well-characterized, and whole genome sequencing data are publicly available in the NHGRI AnVIL data resource; however no phenotype data are associated with these samples. Several are being used in the Human Genome Reference Program. Commonly used reference samples in the NHGRI Repository include:
