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

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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Bibliographic Details
Main Authors: Geryk, J. (Author), Korabecna, M. (Author), Simková, H. (Author), Stenzl, V. (Author), Zedníková, I. (Author), Zinkova, A. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
article
Breakpoint
Breakpoint uncertainty problem
Breakpoints uncertainty problem
cluster analysis
Cluster analysis
Cluster Analysis
Clustering strategy
Clusterings
Constrained clustering
Dissimilarity measures
Genes
genetic variation
Genome, Human
Genomic Structural Variation
genomics
Genomics
high throughput sequencing
High-Throughput Nucleotide Sequencing
human
human genome
Humans
Mendelian inheritance
Mendelian inheritance error
prediction
Structural variant
Structural variants
uncertainty
Uncertainty
Uncertainty analysis
Uncertainty problems
whole genome sequencing
Whole genome sequencing
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