Human Pangenome Reference

PROJECT SUMMARY (Project 1: Human Pangenome Reference) The draft pangenome reference provides a solid foundation upon which to build a mature, more complete human pangenome that better serves humanity. In the next phase of the Human Pangenome Reference Consortium (HPRC), we will identify individuals of broad biogeographical ancestry to include in the reference and ensure that the global population equitably benefits from representation within the pangenome. We will provide the community with a stable foundation for myriad downstream uses and value-added resources by building and validating haplotype-resolved reference assemblies, creating alignments of these assemblies, and creating gene annotations of each assembly. We will support core formats and tooling that make it possible to obtain and work with the pangenome and coordinate the community of downstream tool builders who will ultimately determine the success of the resource. We will coordinate these efforts with the broader scientific community to develop and maintain a pangenomic tool ecosystem that is flexible, adaptable and responsive to user needs. We will solicit and respond to community feedback to incorporate ‘lessons learned’, and identify and respond to challenges to adoption of the pangenome. To maximize its downstream utility and use, and truly function as a reference for all science, all samples included in the core resource will be consented for open access sharing. For high-priority communities who opt to retain control of their own data, we detail a strategy for transferring technology and expertise to these groups so they can work alongside us and benefit from the pangenome data, resources and methods. We will continue to work closely with the embedded HPRC ethical, legal, and social implications (ELSI) team of scholars for guidance on issues such as consent and participant community engagement, and we will continue to initiate and foster collaborations with sister consortia and international partners to develop a democratized resource that is representative of, and useful to, the global populations populations it seeks to represent.