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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Jan Geryk, Alzbeta Zinkova, Iveta Zedníková, Halina Simková, Vlastimil Stenzl, Marie Korabecna
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Bioinformatics
Subjects:
Structural variants
Breakpoints uncertainty problem
Whole genome sequencing
Mendelian inheritance error
Constrained clustering
Online Access:https://doi.org/10.1186/s12859-021-04374-3

Internet

https://doi.org/10.1186/s12859-021-04374-3

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