ArticleComputational and structural biotechnology journal2025
Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.
Article in Computational and structural biotechnology journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases.Current issues in molecular biology · 2025Review
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Authors and funding
11 authors.
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Abstract
Structural variants (SVs) significantly contribute to human disease, but their complexity often makes accurate characterization difficult with conventional methods. Advances in long-read sequencing (LRS) offer potential by spanning kilobases and directly resolving SVs. In this study, we examined two individuals with unresolved SVs. LRS on both DNA and cDNA provided single-base resolution of all breakpoint junctions, revealing detailed rearrangement structures and underlying mechanisms. Transcriptomic analyses identified abnormal fusion transcripts and clarified their functional consequences, including haploinsufficiency and potential dominant-negative effects. In one case, a triplication affecting the
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