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  1. Method: Nanopore sequencing identifies high-frequency somatic structural variations in laryngeal squamous cell carcinoma genomes
    • Xuyan Liu,
    • Lin Xia,
    • Yixin Qiao,
    • Yang Li,
    • Yan Huang,
    • Bingyan Yue,
    • Xi Liang,
    • Xin Yang,
    • Honghui Zhang,
    • Jiaxun Zhang,
    • Xiao Chen,
    • Dan Xie,
    • and Jifeng Liu
    Genome Res. April 8, 2026 gr.281046.125; Published in Advance April 8, 2026, doi:10.1101/gr.281046.125
    ...in which the SRE may regulate the expression of neighboring genes by altering 602 local three-dimensional chromatin architecture. Specifically, the SRE-mediated sequence 603 elongation could increase spatial proximity between a distal regulatory element and the 604 promoters of TP53BP2 and FBXO28, thereby...
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  2. Research: Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma
    • Gonzalo Lopez,
    • Karina L. Conkrite,
    • Miriam Doepner,
    • Komal S. Rathi,
    • Apexa Modi,
    • Zalman Vaksman,
    • Lance M. Farra,
    • Eric Hyson,
    • Moataz Noureddine,
    • Jun S. Wei,
    • Malcolm A. Smith,
    • Shahab Asgharzadeh,
    • Robert C. Seeger,
    • Javed Khan,
    • Jaime Guidry Auvil,
    • Daniela S. Gerhard,
    • John M. Maris,
    • and Sharon J. Diskin
    Genome Res. September 2020 30: 1228-1242; Published in Advance August 13, 2020, doi:10.1101/gr.252106.119
    ...-based approaches do not rely on dosage quantification and do not quantify numerical changes of deletions and tandem duplications. However, they provide essential information about inversions, translocations, and transposable elements, which are elusive to CNV callers. Furthermore, read coverage-based and alignment...
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  1. April 2026, 36 (4)
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