Searching journal content for articles similar to Dittwald et al. 23 (9): 1395.

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  1. Method: Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements
    • Xiaofei Song,
    • Christine R. Beck,
    • Renqian Du,
    • Ian M. Campbell,
    • Zeynep Coban-Akdemir,
    • Shen Gu,
    • Amy M. Breman,
    • Pawel Stankiewicz,
    • Grzegorz Ira,
    • Chad A. Shaw,
    • and James R. Lupski
    Genome Res. August 2018 28: 1228-1242; Published in Advance June 15, 2018, doi:10.1101/gr.229401.117
    ...; Vissers et al. 2009). Copy number variants (CNVs) differ from a normal diploid state by deletion or amplification of genomic segments. When a pair of Alus mediate a genomic rearrangement (i.e., Alu/Alu-mediated rearrangement [AAMR]), a chimeric Alu hybrid will form at the junction (Fig. 1B...
  2. Research: AGAP duplicons associate with structural diversity at Chromosome 10q11.22
    • Stefania Fornezza,
    • Vincenza Simona Delvecchio,
    • William T. Harvey,
    • Philip C. Dishuck,
    • Evan E. Eichler,
    • and Giuliana Giannuzzi
    Genome Res. October 2024 34: 1487-1499; Published in Advance September 25, 2024, doi:10.1101/gr.279454.124
    ...of the last to be fully assembled. It carries copy number–variable genes associated with intellectual disability, bipolar disorder, and obesity. In this study, we characterized the structural diversity at this locus by analyzing 64 haploid assemblies produced by the Human Pan Reference Consortium. We...
  3. Method: Characterizing polymorphic inversions in human genomes by single-cell sequencing
    • Ashley D. Sanders,
    • Mark Hills,
    • David Porubský,
    • Victor Guryev,
    • Ester Falconer,
    • and Peter M. Lansdorp
    Genome Res. November 2016 26: 1575-1587; Published in Advance July 29, 2016, doi:10.1101/gr.201160.115
    ...; Macaulay and Voet 2014). Other than sequence variants, structural polymorphisms such as copy number variants (including insertions, deletions, and duplications) and copy-neutral genomic rearrangements (such as translocations and inversions) playmajor roles in human biology and health (Stankiewicz...
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