期刊
NATURE BIOTECHNOLOGY
卷 40, 期 9, 页码 1332-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41587-022-01261-x
关键词
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资金
- US National Institutes of Health [R01HG010040, U01HG010961, U01HG010971, U41HG010972]
- Howard Hughes Medical Institute funds
- International Rhino Foundation [R-2018-1]
- Revive and Restore
- University of Otago
- Feodor Lynen Fellowship of the Alexander von Humboldt Foundation
- Revive and Restore Catalyst Science Fund
This paper presents an algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to achieve haplotype-resolved genome assembly from single samples without the need for parent sequencing. The algorithm outperforms existing single-sample assembly pipelines and produces assemblies of similar quality to the best pedigree-based assemblies when applied to human and other vertebrate samples.
Routine haplotype-resolved genome assembly from single samples remains an unresolved problem. Here we describe an algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to produce a haplotype-resolved assembly without the sequencing of parents. Applied to human and other vertebrate samples, our algorithm consistently outperforms existing single-sample assembly pipelines and generates assemblies of similar quality to the best pedigree-based assemblies.
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