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Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem

BACKGROUND: Structural variants (SVs) represent an important source of genetic variation. One of the most critical problems in their detection is breakpoint uncertainty associated with the inability to determine their exact genomic position. Breakpoint uncertainty is a characteristic issue of struct...

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Detalles Bibliográficos
Autores principales: Geryk, Jan, Zinkova, Alzbeta, Zedníková, Iveta, Simková, Halina, Stenzl, Vlastimil, Korabecna, Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8474851/
https://www.ncbi.nlm.nih.gov/pubmed/34579642
http://dx.doi.org/10.1186/s12859-021-04374-3