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• W4224227509 abstract "Abstract Identification of structural variants (SVs) breakpoints is important in studying mutations, mutagenic causes, and functional impacts. Next-generation sequencing and whole-genome optical mapping are extensively used in SV discovery and characterization. However, multiple platforms and computational approaches are needed for comprehensive analysis, making it resource-intensive and expensive. Here, we propose a strategy combining optical mapping and cas9-assisted targeted nanopore sequencing to analyze SVs. Optical mapping can economically and quickly detect SVs across a whole genome but does not provide sequence-level information or precisely resolve breakpoints. Furthermore, since only a subset of all SVs is known to affect biology, we attempted to type a subset of all SVs using targeted nanopore sequencing. Using our approach, we resolved the breakpoints of five deletions, five insertions, and an inversion, in a single experiment." @default.
• W4224227509 created "2022-04-26" @default.
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• W4224227509 date "2022-04-20" @default.
• W4224227509 modified "2023-10-14" @default.
• W4224227509 title "Multiplex structural variant detection by whole-genome mapping and nanopore sequencing" @default.
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• W4224227509 doi "https://doi.org/10.1038/s41598-022-10483-7" @default.
• W4224227509 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35444207" @default.
• W4224227509 hasPublicationYear "2022" @default.
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