Haplotype-resolved assembly of diploid genomes without parental data-Reference-Cited by-同舟云学术

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Haplotype-resolved assembly of diploid genomes without parental data

Published:2022-03-24 Issue:9 Volume:40 Page:1332-1335
ISSN:1087-0156
Container-title:Nature Biotechnology
language:en
Short-container-title:Nat Biotechnol

Author:

Cheng Haoyu^ORCID,Jarvis Erich D.^ORCID,Fedrigo Olivier^ORCID,Koepfli Klaus-Peter,Urban Lara,Gemmell Neil J.,Li Heng^ORCID

Funder

Howard Hughes Medical Institute

the International Rhino Foundation (grant number R-2018-1).

Feodor Lynen Fellowship of the Alexander von Humboldt Foundation, a Revive & Restore Catalyst Science Fund, and the University of Otago

Foundation for the National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Biomedical Engineering,Molecular Medicine,Applied Microbiology and Biotechnology,Bioengineering,Biotechnology

Link

https://www.nature.com/articles/s41587-022-01261-x.pdf

Reference20 articles.

1. Logsdon, G. A., Vollger, M. R. & Eichler, E. E. Long-read human genome sequencing and its applications. Nat. Rev. Genet. 21, 597–614 (2020).

2. Rhie, A. et al. Towards complete and error-free genome assemblies of all vertebrate species. Nature 592, 737–746 (2021).

3. Chin, C.-S. et al. Phased diploid genome assembly with single-molecule real-time sequencing. Nat. Methods 13, 1050–1054 (2016).

4. Nurk, S. et al. HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads. Genome Res. 30, 1291–1305 (2020).

5. Cheng, H., Concepcion, G. T., Feng, X., Zhang, H. & Li, H. Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm. Nat. Methods 18, 170–175 (2021).

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