Searching journal content for articles similar to Chen et al. 30 (6): 898.

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  1. Erratum: Erratum: Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information
    • Zhoutao Chen,
    • Long Pham,
    • Tsai-Chin Wu,
    • Guoya Mo,
    • Yu Xia,
    • Peter L. Chang,
    • Devin Porter,
    • Tan Phan,
    • Huu Che,
    • Hao Tran,
    • Vikas Bansal,
    • Justin Shaffer,
    • Pedro Belda-Ferre,
    • Greg Humphrey,
    • Rob Knight,
    • Pavel Pevzner,
    • Son Pham,
    • Yong Wang,
    • and Ming Lei
    Genome Res. May 2021 31: 934; doi:10.1101/gr.275614.121
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  2. 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
    ...). Over the last decade, short-read sequencing (SRS) of fragments of DNA 50–300 bp has been increasingly used in clinical settings for RD diagnosis, providing sequencing of targeted regions, the protein-coding exome (SR-ES), or nearly the entire (SR-GS). SRS enables a high-throughput method to accurately...
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  3. Method: Analyzing rare mutations in metagenomes assembled using long and accurate reads
    • Marcus W. Fedarko,
    • Mikhail Kolmogorov,
    • and Pavel A. Pevzner
    Genome Res. November/December 2022 32: 2119-2133; Published in Advance November 23, 2022, doi:10.1101/gr.276917.122
    ...), enabling “complete metagenomics” studies that were nearly impossible to conduct with short reads. In particular, HiFi reads simplify the identification and phasing of mutations in MAGs: It is increasingly feasible to distinguish between positions that are prone to mutations and positions that rarely ever...
  4. Method: Sequencing of individual barcoded cDNAs using Pacific Biosciences and Oxford Nanopore Technologies reveals platform-specific error patterns
    • Alla Mikheenko,
    • Andrey D. Prjibelski,
    • Anoushka Joglekar,
    • and Hagen U. Tilgner
    Genome Res. April 2022 32: 726-737; Published in Advance March 17, 2022, doi:10.1101/gr.276405.121
    ...as it has been fundamental for short-read sequence analysis (Engström et al. 2013; Steijger et al. 2013; Li et al. 2014a,b).A drawback of commonly used strategies is their lack of single-molecule resolution. For example, percent-spliced-in (PSI) values (Wang et al. 2008) of splice sites, or transcripts per...
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