Mar 7, 2015

svviz: a read viewer for validating structural variants

BioRxiv : the Preprint Server for Biology
Noah SpiesArend Sidow

Abstract

Visualizing read alignments is the most effective way to validate candidate SVs with existing data. We present svviz, a sequencing read visualizer for structural variants (SVs) that sorts and displays only reads relevant to a candidate SV. svviz works by searching input bam(s) for potentially relevant reads, realigning them against the inferred sequence of the putative variant allele as well as the reference allele, and identifying reads that match one allele better than the other. Reads are assigned to the proper allele based on alignment score, read pair orientation and insert size. Separate views of the two alleles are then displayed in a scrollable web browser view, enabling a more intuitive visualization of each allele, compared to the single reference genome-based view common to most current read browsers. The web view facilitates examining the evidence for or against a putative variant, estimating zygosity, visualizing affected genomic annotations, and manual refinement of breakpoints. An optional command-line-only interface allows summary statistics and graphics to be exported directly to standard graphics file formats. svviz is open source and freely available from github, and requires as input only structural variant ...Continue Reading

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Mentioned in this Paper

Computer Software
Size
Genome
Synaptic Vesicles
Nucleic Acid Sequencing
Genomics
Sequencing
Comparative Genomic Analysis
Structure
Short Oligonucleotide Mass Analysis

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