Haplotype-resolved assembly of diploid genomes without parental data.
Publication
, Journal Article
Cheng, H; Jarvis, ED; Fedrigo, O; Koepfli, K-P; Urban, L; Gemmell, NJ; Li, H
Published in: Nat Biotechnol
September 2022
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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Published In
Nat Biotechnol
DOI
EISSN
1546-1696
Publication Date
September 2022
Volume
40
Issue
9
Start / End Page
1332 / 1335
Location
United States
Related Subject Headings
- Sequence Analysis, DNA
- Parents
- Humans
- High-Throughput Nucleotide Sequencing
- Haplotypes
- Genome
- Diploidy
Citation
APA
Chicago
ICMJE
MLA
NLM
Cheng, H., Jarvis, E. D., Fedrigo, O., Koepfli, K.-P., Urban, L., Gemmell, N. J., & Li, H. (2022). Haplotype-resolved assembly of diploid genomes without parental data. Nat Biotechnol, 40(9), 1332–1335. https://doi.org/10.1038/s41587-022-01261-x
Cheng, Haoyu, Erich D. Jarvis, Olivier Fedrigo, Klaus-Peter Koepfli, Lara Urban, Neil J. Gemmell, and Heng Li. “Haplotype-resolved assembly of diploid genomes without parental data.” Nat Biotechnol 40, no. 9 (September 2022): 1332–35. https://doi.org/10.1038/s41587-022-01261-x.
Cheng H, Jarvis ED, Fedrigo O, Koepfli K-P, Urban L, Gemmell NJ, et al. Haplotype-resolved assembly of diploid genomes without parental data. Nat Biotechnol. 2022 Sep;40(9):1332–5.
Cheng, Haoyu, et al. “Haplotype-resolved assembly of diploid genomes without parental data.” Nat Biotechnol, vol. 40, no. 9, Sept. 2022, pp. 1332–35. Pubmed, doi:10.1038/s41587-022-01261-x.
Cheng H, Jarvis ED, Fedrigo O, Koepfli K-P, Urban L, Gemmell NJ, Li H. Haplotype-resolved assembly of diploid genomes without parental data. Nat Biotechnol. 2022 Sep;40(9):1332–1335.
Published In
Nat Biotechnol
DOI
EISSN
1546-1696
Publication Date
September 2022
Volume
40
Issue
9
Start / End Page
1332 / 1335
Location
United States
Related Subject Headings
- Sequence Analysis, DNA
- Parents
- Humans
- High-Throughput Nucleotide Sequencing
- Haplotypes
- Genome
- Diploidy