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Journal article
Multiplex structural variant detection by whole-genome mapping and nanopore sequencing
Scientific reports, v 12(1), pp 6512-6512
20 Apr 2022
PMID: 35444207
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
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Details
- Title
- Multiplex structural variant detection by whole-genome mapping and nanopore sequencing
- Creators
- Lahari Uppuluri - Drexel UniversityYilin Wang - Drexel UniversityEleanor Young - Drexel UniversityJessica S Wong - Drexel UniversityHeba Z Abid - Drexel UniversityMing Xiao - Drexel University
- Publication Details
- Scientific reports, v 12(1), pp 6512-6512
- Publisher
- Springer Nature
- Grant note
- R01HG005946 / NIH HHS
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- School of Biomedical Engineering, Science, and Health Systems
- Web of Science ID
- WOS:000784990500004
- Scopus ID
- 2-s2.0-85128455544
- Other Identifier
- 991019167838304721
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- Web of Science research areas
- Genetics & Heredity