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• W2765957777 abstract "Abstract Acquired genomic structural variants (SVs) are major hallmarks of the cancer genome. Their complexity has been challenging to reconstruct from short-read sequencing data. Here, we exploit the long-read sequencing capability of the nanopore platform using our customized pipeline, Picky , to reveal SVs of diverse architecture in a breast cancer model. From modest sequencing coverage, we identified the full spectrum of SVs with superior specificity and sensitivity relative to short-read analyses and uncovered repetitive DNA as the major source of variation. Examination of the genome-wide breakpoints at nucleotide-resolution uncovered micro-insertions as the common structural features associated with SVs. Breakpoint density across the genome is associated with propensity for inter-chromosomal connectivity and transcriptional regulation. Furthermore, an over-representation of reciprocal translocations from chromosomal double-crossovers was observed through phased SVs. The comprehensive characterization of SVs using the robust long-read sequencing approach in cancer cohorts will facilitate strategies to monitor genome stability during tumor evolution and improve therapeutic intervention." @default.
• W2765957777 created "2017-11-10" @default.
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• W2765957777 date "2017-10-26" @default.
• W2765957777 modified "2023-09-26" @default.
• W2765957777 title "Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome" @default.
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• W2765957777 doi "https://doi.org/10.1101/209718" @default.
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