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SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures

The identification of structural variants using short-read data remains challenging. Most approaches that use discordant paired-end sequences ignore non-trivial signatures presented by variants containing 3 breakpoints, such as those generated by various copy-paste and cut-paste mechanisms. This can...

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Detalles Bibliográficos
Autores principales: Kathuria, Kunal, Ratan, Aakrosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7100977/
https://www.ncbi.nlm.nih.gov/pubmed/32182236
http://dx.doi.org/10.1371/journal.pcbi.1007737