We present an analysis that shows that although nearly half of the human genome comprises repetitive sequences, recombination between homologous repeats has a minor role in cancer chromosomal evolution.
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References
Eichler, E. E. et al. A hot spot of genetic instability in autism. N. Engl. J. Med. 358, 737–739 (2008). A study linking the rapid evolution of the 16p11.2 locus through segmental duplication in the primate lineage to its instability in human populations, which underlies some cases of sporadic autism.
Li, Y. et al. Patterns of somatic structural variation in human cancer genomes. Nature 578, 112–121 (2020). A landmark Pan-Cancer Analysis of Whole Genomes study, analyzing thousands of cancer SRS profiles and finding minimal sequence homology at somatic SV junctions.
Logsdon, G. A. et al. Long-read human genome sequencing and its applications. Nat. Rev. Genet. 21, 597–614 (2020). This review discusses the promise of long-read sequencing in uncovering human SVs.
Hadi, K. et al. Distinct classes of complex structural variation uncovered across thousands of cancer genome graphs. Cell 183, 197–210.e32 (2020). This study applies genomic mass balance to pan-cancer whole-genome analysis.
Aganezov, S. et al. Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res. 30, 1258–1273 (2020). This paper establishes the increased sensitivity of long reads for small (<10 kbp) somatic cancer SVs.
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This is a summary of: Choo, Z.-N. et al. Most large structural variants in cancer genomes can be detected without long reads. Nat. Genet. https://doi.org/10.1038/s41588-023-01540-6 (2023).
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A mass balance principle for finding loose ends in cancer genomes. Nat Genet 55, 2031–2032 (2023). https://doi.org/10.1038/s41588-023-01539-z
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DOI: https://doi.org/10.1038/s41588-023-01539-z
