A draft human pangenome reference
Wen-Wei Liao, Mobin Asri, Jana Ebler · Large collaboration (Human Pangenome Reference Consortium); lead authors Liao, Asri, Ebler. Listed in Nature as Liao WW, Asri M, Ebler J, et al.
Summary
The Human Pangenome Reference Consortium presents a first draft human pangenome built from 47 phased, diploid genome assemblies of genetically diverse individuals. The assemblies cover more than 99% of the expected sequence per genome at over 99% base-level and structural accuracy, and are combined into a graph-based reference. Relative to GRCh38, the pangenome adds about 119 million base pairs of euchromatic polymorphic sequence and 1,115 gene duplications, improving representation of variation at structurally complex loci.
Key findings
- Assembled 47 phased, diploid genomes from diverse individuals into a graph-based draft pangenome reference.
- Captured ~119 Mb of additional euchromatic sequence and 1,115 gene duplications versus GRCh38, much of it from structural variation.
- Reduced small-variant discovery errors and improved structural-variant detection compared with the single linear reference.
Subjects & keywords
Cite this paper
Wen-Wei Liao, Mobin Asri, & Jana Ebler [Large collaboration (Human Pangenome Reference Consortium); lead authors Liao, Asri, Ebler. Listed in Nature as Liao WW, Asri M, Ebler J, et al.] (2023). A draft human pangenome reference. Nature. https://doi.org/10.1038/s41586-023-05896-x
@article{liao2023draft,
author = {Wen-Wei Liao and Mobin Asri and Jana Ebler and {Large collaboration (Human Pangenome Reference Consortium); lead authors Liao, Asri, Ebler. Listed in Nature as Liao WW, Asri M, Ebler J, et al.}},
title = {A draft human pangenome reference},
journal = {Nature},
year = {2023},
doi = {10.1038/s41586-023-05896-x},
url = {https://doi.org/10.1038/s41586-023-05896-x}
}