Searching journal content for articles similar to Jha et al. 34 (11): 1976.

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  1. Mini-Review: A Hitchhiker's Guide to long-read genomic analysis
    • Medhat Mahmoud,
    • Daniel P. Agustinho,
    • and Fritz J. Sedlazeck
    Genome Res. April 2025 35: 545-558; doi:10.1101/gr.279975.124
    ...variants, and deeper insights into the interplay between epigenetics and genomic variation. This mini-review provides a comprehensive overview of the latest developments in long-read DNA sequencing analysis, encompassing reference-based and de novo assembly approaches. We explore the entire workflow, from...
  2. Editorial: Revolutionizing genomics and medicine—one long molecule at a time
    • Ana Conesa,
    • Alexander Hoischen,
    • and Fritz J. Sedlazeck
    Genome Res. November 2024 34: ix-xi; doi:10.1101/gr.280179.124
    ..., Finkbeiner C, et al. 2024. DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools. Genome Res (this issue) 34: 1976–1986. doi:10.1101/gr.279095.124 ↵Kamath SS, Bindra M, Pal D, Jain C. 2024. Telomere-to-telomere assembly by preserving contained reads. Genome Res (this issue...
  3. Method: Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
    • Stephanie C. Bohaczuk,
    • Zachary J. Amador,
    • Chang Li,
    • Benjamin J. Mallory,
    • Elliott G. Swanson,
    • Jane Ranchalis,
    • Mitchell R. Vollger,
    • Katherine M. Munson,
    • Tom Walsh,
    • Morgan O. Hamm,
    • Yizi Mao,
    • Andre Lieber,
    • and Andrew B. Stergachis
    Genome Res. December 2024 34: 2269-2278; Published in Advance December 9, 2024, doi:10.1101/gr.279747.124
    ...fiber sequencing (Fiber-seq) achieves this, permitting single-molecule, long-read genomic, and epigenomic profiling across targeted >100 kb loci with ∼10-fold enrichment over untargeted sequencing. Targeted Fiber-seq reveals that pathogenic expansions of the DMPK CTG repeat that underlie Myotonic...
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