om-annotsv-svc:
Optical Mapping and AnnotSV Structural Variant Comparator
Project Name: | Impact of functional polymorphisms influencing inflammation and oxidative stress on outcome and selection of treatment in chronic lymphocytic leukemia. |
Project Number: | AZV 16-32339A (P03) |
Authors: | Tomáš Novosád, Jakub Savara |
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Type: | standalone desktop application |
Resource: | Available on github. |
A software tool for comparison of structural variants identified by optical mapping technology (Bionano Genomics) and long-read next-generation sequencing technologies i.e. 10xGenomics, Oxford Nanopore Technologies and Pacific Biosciences. Structural variants produced by long-read next-generation sequencing technologies are analyzed using AnnotSV software tool. The tool computes the distance variance between the Bionano and AnnotSV genomic coordinates for the beginning and end of individual SVs. Various types of filtering, such as overlapping gene filter, variant type filter or distance sum variance filter can be used. The tool is provided as CLI application and is platform independent.

