The Human Pangenome Project: a global resource to map genomic diversity.
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
received:
30
08
2021
accepted:
01
03
2022
entrez:
21
4
2022
pubmed:
22
4
2022
medline:
23
4
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35444317
doi: 10.1038/s41586-022-04601-8
pii: 10.1038/s41586-022-04601-8
pmc: PMC9402379
mid: NIHMS1828150
doi:
Types de publication
Journal Article
Review
Research Support, N.I.H., Intramural
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
437-446Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG010961
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG010972
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010973
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010963
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Informations de copyright
© 2022. Springer Nature Limited.
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