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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...
Autores principales: | Geryk, Jan, Zinkova, Alzbeta, Zedníková, Iveta, Simková, Halina, Stenzl, Vlastimil, Korabecna, Marie |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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 |
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