SVPV: a structural variant prediction viewer for paired-end sequencing datasets.
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- Record sourced from PubMed, PMID 28334120.
- Also identified by DOI 10.1093/bioinformatics/btx117.
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Abstract
A wide range of algorithms exist for the prediction of structural variants (SVs) from paired-end whole genome sequencing (WGS) alignments. It is essential for the purpose of quality control to be able to visualize, compare and contrast the data underlying the predictions across multiple different algorithms. We provide the structural variant prediction viewer, a tool which presents a visual summary of the most relevant features for SV prediction from WGS data. SV calls from multiple prediction algorithms may be visualized together, along with annotation of population allele frequencies from reference SV datasets. Gene annotations may also be included. The application is capable of running in a Graphical User Interface (GUI) mode for visualizing SVs one by one, or in batch mode for processing many SVs serially. SVPV is available at GitHub ( https://github.com/VCCRI/SVPV/ ). e.giannoulatou@victorchang.edu.au. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Genome, Human
- Genomic Structural Variation
- High-Throughput Nucleotide Sequencing
- Software
- Whole Genome Sequencing