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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...

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Detalles Bibliográficos
Autores principales: Uppuluri, Lahari, Wang, Yilin, Young, Eleanor, Wong, Jessica S., Abid, Heba Z., Xiao, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
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