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Multiplex structural variant detection by whole-genome mapping and nanopore sequencing
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 a...
Autores principales: | Uppuluri, Lahari, Wang, Yilin, Young, Eleanor, Wong, Jessica S., Abid, Heba Z., Xiao, Ming |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021263/ https://www.ncbi.nlm.nih.gov/pubmed/35444207 http://dx.doi.org/10.1038/s41598-022-10483-7 |
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