The Human Pangenome Project: a global resource to map genomic diversity.

TitleThe Human Pangenome Project: a global resource to map genomic diversity.
Publication TypeJournal Article
Year of Publication2022
AuthorsWang, T, Antonacci-Fulton, L, Howe, K, Lawson, HA, Lucas, JK, Phillippy, AM, Popejoy, AB, Asri, M, Carson, C, Chaisson, MJP, Chang, X, Cook-Deegan, R, Felsenfeld, AL, Fulton, RS, Garrison, EP, Garrison, N'A, Graves-Lindsay, TA, Ji, H, Kenny, EE, Koenig, BA, Li, D, Marschall, T, McMichael, JF, Novak, AM, Purushotham, D, Schneider, VA, Schultz, BI, Smith, MW, Sofia, HJ, Weissman, T, Flicek, P, Li, H, Miga, KH, Paten, B, Jarvis, ED, Hall, IM, Eichler, EE, Haussler, D
Corporate Authors
JournalNature
Volume604
Issue7906
Pagination437-446
Date Published2022 Apr
ISSN1476-4687
KeywordsGenome, Human, Genomics, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA
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 partnerships with the goal of constructing the highest-possible quality human pangenome reference. Our goal is to improve data representation and streamline analyses to enable routine assembly of complete diploid genomes. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve gene-disease association studies across populations, expand the scope of genomics research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine.

DOI10.1038/s41586-022-04601-8
Alternate JournalNature
PubMed ID35444317
PubMed Central IDPMC9402379
Grant ListU01 HG010961 / HG / NHGRI NIH HHS / United States
U41 HG010972 / HG / NHGRI NIH HHS / United States
U01 HG010973 / HG / NHGRI NIH HHS / United States
U01 HG010963 / HG / NHGRI NIH HHS / United States
U01 HG010971 / HG / NHGRI NIH HHS / United States