phasebook: haplotype-aware de novo assembly of diploid genomes from long reads

Luo X, Kang X, Schönhuth A (2021)
Genome Biology 22(1): 299.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Abstract / Bemerkung
Haplotype-aware diploid genome assembly is crucial in genomics, precision medicine, and many other disciplines. Long-read sequencing technologies have greatly improved genome assembly. However, current long-read assemblers are either reference based, so introduce biases, or fail to capture the haplotype diversity of diploid genomes. We present phasebook, a de novo approach for reconstructing the haplotypes of diploid genomes from long reads. phasebook outperforms other approaches in terms of haplotype coverage by large margins, in addition to achieving competitive performance in terms of assembly errors and assembly contiguity. © 2021. The Author(s).
Erscheinungsjahr
2021
Zeitschriftentitel
Genome Biology
Band
22
Ausgabe
1
Art.-Nr.
299
eISSN
1474-760X
Finanzierungs-Informationen
Open-Access-Publikationskosten wurden durch die Universität Bielefeld gefördert.
Page URI
https://pub.uni-bielefeld.de/record/2958717

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Luo X, Kang X, Schönhuth A. phasebook: haplotype-aware de novo assembly of diploid genomes from long reads. Genome Biology. 2021;22(1): 299.
Luo, X., Kang, X., & Schönhuth, A. (2021). phasebook: haplotype-aware de novo assembly of diploid genomes from long reads. Genome Biology, 22(1), 299. https://doi.org/10.1186/s13059-021-02512-x
Luo, Xiao, Kang, Xiongbin, and Schönhuth, Alexander. 2021. “phasebook: haplotype-aware de novo assembly of diploid genomes from long reads”. Genome Biology 22 (1): 299.
Luo, X., Kang, X., and Schönhuth, A. (2021). phasebook: haplotype-aware de novo assembly of diploid genomes from long reads. Genome Biology 22:299.
Luo, X., Kang, X., & Schönhuth, A., 2021. phasebook: haplotype-aware de novo assembly of diploid genomes from long reads. Genome Biology, 22(1): 299.
X. Luo, X. Kang, and A. Schönhuth, “phasebook: haplotype-aware de novo assembly of diploid genomes from long reads”, Genome Biology, vol. 22, 2021, : 299.
Luo, X., Kang, X., Schönhuth, A.: phasebook: haplotype-aware de novo assembly of diploid genomes from long reads. Genome Biology. 22, : 299 (2021).
Luo, Xiao, Kang, Xiongbin, and Schönhuth, Alexander. “phasebook: haplotype-aware de novo assembly of diploid genomes from long reads”. Genome Biology 22.1 (2021): 299.
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2022-10-17T06:54:22Z
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