A comprehensive collection of diverse and highly accurate human reference genomes is critical to a complete understanding of human genetics. Samples in this project will be selected to improve the representation of human genetic variation, which will provide a richer and more complete human genomic reference resource. A richer human reference will improve our ability to predict, diagnose and treat disease.

Initial Sampling Effort

Initial samples included in the project are from the 1000 genomes (1KG) collection at Coriell. Selection of the 1KG lines are prioritized based upon samples’ ability to cover genetic and geographic variation and availability of low passage cell lines to avoid artifacts that may arise during extensive cell culture. An initial subset were prioritized due to the availability of trios/parental data to assist in the technical challenges of phased assembly release.

Future Sampling

Genomes generated from 1000 Genomes cell lines alone are insufficient to capture the full extent of genomic diversity among humans. To ensure that we maximize our representation of variant diversity, we are broadening our efforts to recruit new participants into this study. Currently, we have established a consent and protocol to conduct prospective recruitment of participants from the Mount Sinai Health System in New York City. Future efforts may expand prospective recruitment to the HPRC at additional locations and institutions.