{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang T"],"funding":["NHGRI NIH HHS"],"pagination":["437-446"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9402379"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["604(7906)"],"pubmed_abstract":["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 partn"],"journal":["Nature"],"pubmed_title":["The Human Pangenome Project: a global resource to map genomic diversity."],"pmcid":["PMC9402379"],"funding_grant_id":["U01 HG010961","U01 HG010973","U01 HG010971","U01 HG010963","U41 HG010972"],"pubmed_authors":["McMichael JF","Schneider VA","Asri M","Koenig BA","Paten B","Fulton RS","Garrison NA","Smith MW","Howe K","Garrison EP","Flicek P","Wang T","Lucas JK","Felsenfeld AL","Novak AM","Li H","Hall IM","Jarvis ED","Miga KH","Ji H","Li D","Purushotham D","Human Pangenome Reference Consortium","Graves-Lindsay TA","Kenny EE","Cook-Deegan R","Haussler D","Antonacci-Fulton L","Popejoy AB","Schultz BI","Chang X","Phillippy AM","Marschall T","Sofia HJ","Chaisson MJP","Eichler EE","Weissman T","Lawson HA","Carson C"],"additional_accession":[]},"is_claimable":false,"name":"The Human Pangenome Project: a global resource to map genomic diversity.","description":"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 partn","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-06-04T04:40:54.171Z","creation":"2025-04-04T07:11:50.98Z"},"accession":"S-EPMC9402379","cross_references":{"pubmed":["35444317"],"doi":["10.1038/s41586-022-04601-8"]}}