Human Pangenome Reference Consortium
The Human Pangenome Reference Consortium (HPRC) is an NIH-funded project that aims to engage scientists and bioethicists in creating a human pangenome reference and resource that represents global human genomic variation. In the process of creating the pangenome, the HPRC is developing improved technology for genome assembly and a next-generation tool ecosystem that leverages the pangenome for comprehensive analyses.
We Need More Than One Human Reference Genome
The human reference genome has served as the foundational resource for human genetics for the past 20 years, providing a centralized coordinate system that has been integral for genomic data sharing and analyses. However, the HG38 linear reference is a mosaic assembly composed of data from over 20 individuals, with a single individual representing around 70% of the sequence. This creates a “reference bias” in analyses, including in variant discovery, disease association studies, and reference-based mapping.
The HPRC will build a pangenome reference resource that will better serve humanity by providing a graph-based, telomere-to-telomere representation that contains a more accurate and diverse depiction of global genomic variation.
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