Searching journal content for articles similar to Guiblet et al. 28 (12): 1767.

Displaying results 1-10 of 6234
For checked items
  1. Research: Strong bias in long-read sequencing prevents assembly of Drosophila melanogaster Y-linked genes
    • A. Bernardo Carvalho,
    • Bernard Y. Kim,
    • and Fabiana Uno
    Genome Res. January 2026 36: 71-82; Published in Advance October 1, 2025, doi:10.1101/gr.280604.125
    ...to 8 bp. We looked for blocks of the complex satellite 1.688 (monomer size, ∼ 359 bp), which is known to occur close to genes (Kuhn et al. 2012), and found that it does not cause a consistent and significant sequencing bias (Supplemental Fig. S21; Supplemental Results).Non-B DNA and sequencing bias...
  2. Method: Long-read reconstruction of many diverse haplotypes with devider
    • Jim Shaw,
    • Christina Boucher,
    • Yun William Yu,
    • Noelle Noyes,
    • and Heng Li
    Genome Res. December 2025 35: 2637-2649; Published in Advance September 23, 2025, doi:10.1101/gr.280510.125
    ...regions compared with short reads. Still, a technical challenge is to deal with sequencing errors for certain technologies; for example, Oxford Nanopore Technologies (ONT) long reads can have 90%−99% sequencing accuracy depending on the chemistry and basecalling (Sereika et al. 2022). We focus on small...
  3. 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
    ...to traditional tissue biopsies in cancer management, offering a minimally invasive method for analyzing circulating tumor cells, cell-free DNA (cfDNA), and other biomarkers in bodily fluids (Ignatiadis et al. 2021; Zhu et al. 2023). Recent advancements in long-read sequencing technologies have further enhanced...
    OPEN ACCESS ARTICLE
  4. Research: Long-read sequencing reveals HBV integration patterns and oncogenic impact on early-onset hepatocellular carcinoma
    • Yao Wang,
    • Dong Yu,
    • Yue Mei,
    • ZhiDa Fu,
    • Jian Lin,
    • Di Wu,
    • Yuan Yang,
    • and Hongli Yan
    Genome Res. November 2025 35: 2389-2405; Published in Advance September 16, 2025, doi:10.1101/gr.279889.124
    ...that integrates into host genomic DNA and forms virus–virus and virus–host genomic structural rearrangements, which are unstable and lead to further intratumoral heterogeneity and clonal evolution; through long-read sequencing, unique breakpoints shared across structural variants were also observed in HPV...
  5. Method: Long-read RNA sequencing reveals allele-specific N6-methyladenosine modifications
    • Dayea Park and
    • Can Cenik
    Genome Res. April 2025 35: 999-1011; Published in Advance October 29, 2024, doi:10.1101/gr.279270.124
    ...ASM calls. Hence, we verified the genomic DNA sequences near the m6A modification sites using Sanger sequencing (Supplemental Table 5; Methods). In six selected ASM sites, we confirmed annotated SNPs (Nudt1, D site), and the absence of unannotated genetic variants. These results indicate...
  6. Research: The rate and spectrum of new mutations in mice inferred by long-read sequencing
    • Eugenio López-Cortegano,
    • Jobran Chebib,
    • Anika Jonas,
    • Anastasia Vock,
    • Sven Künzel,
    • Peter D. Keightley,
    • and Diethard Tautz
    Genome Res. January 2025 35: 43-54; Published in Advance December 2, 2024, doi:10.1101/gr.279982.124
    ...investigation is required to fully understand the complete spectrum of new mutations, which will depend on the development of improved and more accessible long-read sequencing technologies, along with tools for analyzing large tandem repeats.MethodsBiological samples, high-molecular-weight DNA extraction...
    OPEN ACCESS ARTICLE
  7. Method: FocalSV enables target region–based structural variant assembly and refinement using single-molecule long-read sequencing data
    • Can Luo,
    • Zimeng Jamie Zhou,
    • Yichen Henry Liu,
    • and Xin Maizie Zhou
    Genome Res. October 2025 35: 2252-2272; Published in Advance August 13, 2025, doi:10.1101/gr.280282.124
    ...with lower proportions of phasing-informative reads.FocalSV achieves superior performance in complex somatic SV detection in cancer dataTo extend the evaluation to include SV detection beyond deletions and insertions, we analyzed additional SV types involving complex DNA rearrangements...
    OPEN ACCESS ARTICLE
  8. Method: Analytical validation of germline small variant detection using long-read HiFi genome sequencing
    • Nathan Hammond,
    • Linda Liao,
    • Pun Wai Tong,
    • Zena Ng,
    • Thuy-Mi P. Nguyen,
    • Chandler Ho,
    • Yao Yang,
    • and Stuart A. Scott
    Genome Res. June 2025 35: 1391-1399; Published in Advance April 11, 2025, doi:10.1101/gr.278836.123
    ...provide the infrastructure for long-read HiFi sequencing-based detection of germline variation, which supports the use of this innovative technology for clinical diagnostic testing.MethodsAnalytical validation specimensHigh molecular weight (HMW) reference material DNA samples were acquired from...
  9. 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...
  10. Research: Accurate genotyping of three major respiratory bacterial pathogens with ONT R10.4.1 long-read sequencing
    • Nora Zidane,
    • Carla Rodrigues,
    • Valérie Bouchez,
    • Martin Rethoret-Pasty,
    • Virginie Passet,
    • Sylvain Brisse,
    • and Chiara Crestani
    Genome Res. August 2025 35: 1758-1766; Published in Advance June 2, 2025, doi:10.1101/gr.279829.124
    ...promising results in bacterial s (Wick 2024a,b). To this end, each subsampled read set was corrected with HERRO through its integrated version within Dorado.De novo assemblyShort-read sequence data were assembled with fq2dna v21.06 (https://gitlab.pasteur.fr/GIPhy/fq2dna). Subsampled long-read data sets...
For checked items

Search Results

Next 10 » New Search

Modify Results

Citation format:
Results / page:
Results order:

This search

  • Alert me when new articles matching this search are published
  • Download all citations on this page to my citation manager

Preprint Server



Current Issue

  1. March 2026, 36 (3)
  1. Current Issue
  1. Alert me to new issues of Genome Research