TY - JOUR
T1 - The Human Pangenome Project
T2 - a global resource to map genomic diversity
AU - Human Pangenome Reference Consortium
AU - Wang, Ting
AU - Antonacci-Fulton, Lucinda
AU - Howe, Kerstin
AU - Lawson, Heather A.
AU - Lucas, Julian K.
AU - Phillippy, Adam M.
AU - Popejoy, Alice B.
AU - Asri, Mobin
AU - Carson, Caryn
AU - Chaisson, Mark J.P.
AU - Chang, Xian
AU - Cook-Deegan, Robert
AU - Felsenfeld, Adam L.
AU - Fulton, Robert S.
AU - Garrison, Erik P.
AU - Garrison, Nanibaa' A.
AU - Graves-Lindsay, Tina A.
AU - Ji, Hanlee
AU - Kenny, Eimear E.
AU - Koenig, Barbara A.
AU - Li, Daofeng
AU - Marschall, Tobias
AU - McMichael, Joshua F.
AU - Novak, Adam M.
AU - Purushotham, Deepak
AU - Schneider, Valerie A.
AU - Schultz, Baergen I.
AU - Smith, Michael W.
AU - Sofia, Heidi J.
AU - Weissman, Tsachy
AU - Flicek, Paul
AU - Li, Heng
AU - Miga, Karen H.
AU - Paten, Benedict
AU - Jarvis, Erich D.
AU - Hall, Ira M.
AU - Eichler, Evan E.
AU - Haussler, David
N1 - Publisher Copyright: © 2022. Springer Nature Limited.
PY - 2022/4/1
Y1 - 2022/4/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85128150573&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85128150573&partnerID=8YFLogxK
U2 - 10.1038/s41586-022-04601-8
DO - 10.1038/s41586-022-04601-8
M3 - Review article
C2 - 35444317
SN - 0028-0836
VL - 604
SP - 437
EP - 446
JO - Nature
JF - Nature
IS - 7906
ER -