Searching journal content for articles similar to Steyaert et al. 35 (4): 755.

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  1. Mini-Review: The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
    • Giulia F. Del Gobbo and
    • Kym M. Boycott
    Genome Res. April 2025 35: 559-571; Published in Advance February 3, 2025, doi:10.1101/gr.279970.124
    ...Technologies (ONT). PacBio high-fidelity (HiFi) sequencing uses a sequencing-by-synthesis method. Double-stranded, high-molecular-weight DNA from a size-selected library of ∼15 kb is first circularized by ligating adaptors to the end of the fragments, then each circular DNA molecule undergoes multiple rounds...
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  2. Perspective: Unraveling the hidden complexity of cancer through long-read sequencing
    • Qiuhui Li,
    • Ayse G. Keskus,
    • Justin Wagner,
    • Michal B. Izydorczyk,
    • Winston Timp,
    • Fritz J. Sedlazeck,
    • Alison P. Klein,
    • Justin M. Zook,
    • Mikhail Kolmogorov,
    • and Michael C. Schatz
    Genome Res. April 2025 35: 599-620; Published in Advance March 20, 2025, doi:10.1101/gr.280041.124
    ...sequencing. This began in 2020 with the publication of the first gapless assembly of the human X Chromosome using ultra-long-read nanopore sequencing (Miga et al. 2020). Then in 2022, the consortium published T2T-CHM13 as the first fully gapless human assembled primarily from PacBio HiFi and ONT Ultralong...
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  3. Perspective: The impact of long-read sequencing on human population-scale genomics
    • Tobias Rausch,
    • Tobias Marschall,
    • and Jan O. Korbel
    Genome Res. April 2025 35: 593-598; doi:10.1101/gr.280120.124
    ...-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, et al. 2025. Unraveling undiagnosed rare disease cases by HiFi long-read sequencing. Genome Res (this issue) 35: 755–768. doi:10.1101/gr.279414.124 ↵Zhao X, Collins RL, Lee W-P, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H...
  4. Mini-Review: Evolution of genome-wide methylation profiling technologies
    • Carolina Montano and
    • Winston Timp
    Genome Res. April 2025 35: 572-582; doi:10.1101/gr.278407.123
    ..., Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, et al. 2023. Direct haplotype- resolved 5-base HiFi sequencing for -wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun 14: 3090. doi:10.1038/s41467-023-38782-1 ↵Choy LYL, Peng W, Jiang P...
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  5. Editorial: Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases
    • Ana Conesa,
    • Alexander Hoischen,
    • and Fritz J. Sedlazeck
    Genome Res. April 2025 35: xi-xiv; doi:10.1101/gr.280665.125
    ...-Codina A , Gagneur J , Ellwanger K , Derks R , Weiss M , den Ouden A , et al. 2025 . Unraveling undiagnosed rare disease cases by HiFi long-read sequencing . Genome Res (this issue) 35 : 755 – 768 . doi: 10.1101/gr.279414.124 ↵ van der Sanden B , Neveling K , Shukor S , Gallagher MD , Lee J , Burke SL , Pennings M...
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