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Three-Dimensional Nuclear Architecture and Genomic Structural Variations in Melanoma

Year: 2024
Type: article
Abstract: Breakthroughs in genomic sequencing, machine learning, and mathematical modeling have changed our understanding of cellular 3-dimensional nuclear architecture. In addition, these advances have uncovered structural variations (SVs) that permit interactions of otherwise distant DNA segments such as oncogenes and promoters (Carvalho and Lupski, 2016). SVs are challenging to conceptualize, identify, and study compared with genomic alterations caused by exogenous DNA (such as viral DNA), single-nucleotide variants otherwise known as point mutations, or short insertions and deletions, which alter only a few base pairs (Carvalho and Lupski, 2016; Cosenza et al, 2022).
DOI: 10.1016/j.jid.2024.12.004
Authors: Sach Thakker, Joshua Arbesman, Jason C. Klein, Joel C. Sunshine, Vito W. Rebecca, Micah Belzberg
Institutions: Georgetown University, Cleveland Clinic, Memorial Sloan Kettering Cancer Center, Johns Hopkins University, Johns Hopkins Medicine, Johns Hopkins Hospital
Language: English
Open Access status: hybrid
Estimated APC paid: $3,400
OpenAlex ID: W4405747144
FWCI:
Cites: 10
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Related to: 10