Minigraph-Cactus, a method to efficiently combine multiple reference genome assemblies into a pangenome reference graph, can be used to improve accuracy of read mapping and variant calling compared with a single reference in downstream applications.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Tettelin, H. et al. Genome analysis of multiple pathogenic isolates of Streptococcus agalactiae: Implications for the microbial “pan-genome”. Proc. Natl Acad. Sci USA 102, 13950–13955 (2005). The origin of the term pangenome.
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 (2021). Landmark study of human structural variation from multiple genome assemblies.
Cheng, H. et al. Haplotype-resolved assembly of diploid genomes without parental data. Nat. Biotechnol. 40, 1332–1335 (2022). A push-button method to assemble reference quality genomes.
Liao, W. W. et al. A draft human pangenome reference. Nature 617, 312–324 (2023). The HPRC genome assemblies and a detailed characterization of the human pangenome constructed by Minigraph-Cactus.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
This is a summary of: Hickey, G. et al. Pangenome graph construction from genome alignments with Minigraph-Cactus. Nat. Biotechnol. https://doi.org/10.1038/s41587-023-01793-w (2023).
Rights and permissions
About this article
Cite this article
Combining reference genomes into a pangenome graph improves accuracy and reduces bias. Nat Biotechnol 42, 580–581 (2024). https://doi.org/10.1038/s41587-023-01828-2
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41587-023-01828-2
