VALOR2: characterization of large-scale structural variants using linked-reads
Date
2020-03
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Source Title
Genome Biology
Print ISSN
1474-760X
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Publisher
BioMed Central Ltd.
Volume
21
Issue
72
Pages
Language
English
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Abstract
Most existing methods for structural variant detection focus on discovery and genotyping of deletions, insertions, and mobile elements. Detection of balanced structural variants with no gain or loss of genomic segments, for example, inversions and translocations, is a particularly challenging task. Furthermore, there are very few algorithms to predict the insertion locus of large interspersed segmental duplications and characterize translocations. Here, we propose novel algorithms to characterize large interspersed segmental duplications, inversions, deletions, and translocations using linked-read sequencing data. We redesign our earlier algorithm, VALOR, and implement our new algorithms in a new software package, called VALOR2.