The Human Pangenome Project: a global resource to map genomic diversity. Wang, T., Antonacci-Fulton, L., Howe, K., Lawson, H. A., Lucas, J. K., Phillippy, A. M., Popejoy, A. B., Asri, M., Carson, C., Chaisson, M. J. P., Chang, X., Cook-Deegan, R., Felsenfeld, A. L., Fulton, R. S., Garrison, E. P., Garrison, N. A., Graves-Lindsay, T. A., Ji, H., Kenny, E. E., Koenig, B. A., Li, D., Marschall, T., McMichael, J. F., Novak, A. M., Purushotham, D., Schneider, V. A., Schultz, B. I., Smith, M. W., Sofia, H. J., Weissman, T., Flicek, P., Li, H., Miga, K. H., Paten, B., Jarvis, E. D., Hall, I. M., Eichler, E. E., & Haussler, D. Nature, 604(7906):437–446, April, 2022. Number: 7906 Publisher: Nature Publishing Group![The Human Pangenome Project: a global resource to map genomic diversity [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 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.
@article{wang_human_2022,
title = {The {Human} {Pangenome} {Project}: a global resource to map genomic diversity},
volume = {604},
copyright = {2022 Springer Nature Limited},
issn = {1476-4687},
shorttitle = {The {Human} {Pangenome} {Project}},
url = {https://www.nature.com/articles/s41586-022-04601-8},
doi = {10.1038/s41586-022-04601-8},
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.},
language = {en},
number = {7906},
urldate = {2022-07-14},
journal = {Nature},
author = {Wang, Ting and Antonacci-Fulton, Lucinda and Howe, Kerstin and Lawson, Heather A. and Lucas, Julian K. and Phillippy, Adam M. and Popejoy, Alice B. and Asri, Mobin and Carson, Caryn and Chaisson, Mark J. P. and Chang, Xian and Cook-Deegan, Robert and Felsenfeld, Adam L. and Fulton, Robert S. and Garrison, Erik P. and Garrison, Nanibaa’ A. and Graves-Lindsay, Tina A. and Ji, Hanlee and Kenny, Eimear E. and Koenig, Barbara A. and Li, Daofeng and Marschall, Tobias and McMichael, Joshua F. and Novak, Adam M. and Purushotham, Deepak and Schneider, Valerie A. and Schultz, Baergen I. and Smith, Michael W. and Sofia, Heidi J. and Weissman, Tsachy and Flicek, Paul and Li, Heng and Miga, Karen H. and Paten, Benedict and Jarvis, Erich D. and Hall, Ira M. and Eichler, Evan E. and Haussler, David},
month = apr,
year = {2022},
note = {Number: 7906
Publisher: Nature Publishing Group},
keywords = {high-level, pangenome, pangenome graph, recent, review},
pages = {437--446},
}
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