Figure 1: The Human Pangenome Reference Consortium.

This diagram provides an overview of the HPRC’s several components. Collect: I,000 Genomes samples jump-start the project and will be followed by additional samples collected through community engagement and recruitment. Sample selection efforts will ensure the graph-based reference captures global human genomic diversity. Sequence: Long-read and long-range technologies are used to generate genome graphs and bridge gaps in difficult-to-assemble genomic regions. Assemble: Telomere-to-telomere finished diploid genomes will foster variant discovery, especially in complex, difficult to assemble genomic regions. Construct: Scalable bioinformatics approaches assemble, QC, call variants, and benchmark graph assembly accuracy. The graph is annotated with gene descriptions and transcriptome data, making it more accessible and interpretable. Utilize: Collaboration across scientific and stakeholder communities will create a new ecosystem of analysis tools. Clinical applications and research use will involve analysis, validation, interpretation, and publication of results. Outreach: Members of the HPRC Outreach community engage and educate the user community and broadly share all genomic products and informatics platforms. ELSI: ELSI scholars will develop selection processes and policy frameworks that meet investigator needs while respecting research partner autonomy and cultural norms.