biostudies-literatureWang TNHGRI NIH HHS437-446https://www.ebi.ac.uk/biostudies/studies/S-EPMC9402379biostudies-literatureUnknown604(7906)The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partnNatureThe Human Pangenome Project: a global resource to map genomic diversity.PMC9402379U01 HG010961U01 HG010973U01 HG010971U01 HG010963U41 HG010972McMichael JFSchneider VAAsri MKoenig BAPaten BFulton RSGarrison NASmith MWHowe KGarrison EPFlicek PWang TLucas JKFelsenfeld ALNovak AMLi HHall IMJarvis EDMiga KHJi HLi DPurushotham DHuman Pangenome Reference ConsortiumGraves-Lindsay TAKenny EECook-Deegan RHaussler DAntonacci-Fulton LPopejoy ABSchultz BIChang XPhillippy AMMarschall TSofia HJChaisson MJPEichler EEWeissman TLawson HACarson CfalseThe Human Pangenome Project: a global resource to map genomic diversity.The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partn2022-01-01T00:00:00Z2022 Apr2026-06-04T04:40:54.171Z2025-04-04T07:11:50.98ZS-EPMC94023793544431710.1038/s41586-022-04601-8