CloveBiotech: Complex structural variant calling for engineered microbial strains

This paper introduces CloveBiotech, an extension and optimization of CLOVE, which is designed to accurately classify complex structural variants (SVs) resulting from genetic modifications in the genomes of microbial strains. While CLOVE covers various complex SV types, it lacks support for large ins...

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Main Authors: Schusterbauer Veronika, Reinprecht Pierre, Thallinger Gerhard G.
Format: Article
Language:English
Published: De Gruyter 2023-12-01
Series:Current Directions in Biomedical Engineering
Subjects:
Online Access:https://doi.org/10.1515/cdbme-2023-1210
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author Schusterbauer Veronika
Reinprecht Pierre
Thallinger Gerhard G.
author_facet Schusterbauer Veronika
Reinprecht Pierre
Thallinger Gerhard G.
author_sort Schusterbauer Veronika
collection DOAJ
description This paper introduces CloveBiotech, an extension and optimization of CLOVE, which is designed to accurately classify complex structural variants (SVs) resulting from genetic modifications in the genomes of microbial strains. While CLOVE covers various complex SV types, it lacks support for large insertions, targeted vector integrations and substitutions of genes with a marker cassette. CloveBiotech addresses these limitations by modifying the algorithm to handle more diverse SV scenarios, including new fusion patterns. However, covering these scenarios demanded a major rewrite of multiple classes and functions. Performance evaluations on simulated data demonstrate its improved precision and recall rates of up to 0.92 and 0.96 respectively, across different sequencing parameters. With these enhancemanets, CloveBiotech provides a valuable tool for scientists working with genetically modified microorganisms, facilitating accurate SV detection and classification.
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spelling doaj.art-c21d438bf0774d7fa40afb16fd9fb0ec2024-01-08T09:53:11ZengDe GruyterCurrent Directions in Biomedical Engineering2364-55042023-12-0192343810.1515/cdbme-2023-1210CloveBiotech: Complex structural variant calling for engineered microbial strainsSchusterbauer Veronika0Reinprecht Pierre1Thallinger Gerhard G.2bisy GmbH, Wuenschendorf 292, Hofstaetten/Raab, Austriabisy GmbH, Wuenschendorf 292, Hofstaetten/Raab, AustriaInstitute of Biomedical Informatics, Stremayrgasse 16,Graz, AustriaThis paper introduces CloveBiotech, an extension and optimization of CLOVE, which is designed to accurately classify complex structural variants (SVs) resulting from genetic modifications in the genomes of microbial strains. While CLOVE covers various complex SV types, it lacks support for large insertions, targeted vector integrations and substitutions of genes with a marker cassette. CloveBiotech addresses these limitations by modifying the algorithm to handle more diverse SV scenarios, including new fusion patterns. However, covering these scenarios demanded a major rewrite of multiple classes and functions. Performance evaluations on simulated data demonstrate its improved precision and recall rates of up to 0.92 and 0.96 respectively, across different sequencing parameters. With these enhancemanets, CloveBiotech provides a valuable tool for scientists working with genetically modified microorganisms, facilitating accurate SV detection and classification.https://doi.org/10.1515/cdbme-2023-1210structural variationsgenomic rearrangementsgenetic engineering
spellingShingle Schusterbauer Veronika
Reinprecht Pierre
Thallinger Gerhard G.
CloveBiotech: Complex structural variant calling for engineered microbial strains
Current Directions in Biomedical Engineering
structural variations
genomic rearrangements
genetic engineering
title CloveBiotech: Complex structural variant calling for engineered microbial strains
title_full CloveBiotech: Complex structural variant calling for engineered microbial strains
title_fullStr CloveBiotech: Complex structural variant calling for engineered microbial strains
title_full_unstemmed CloveBiotech: Complex structural variant calling for engineered microbial strains
title_short CloveBiotech: Complex structural variant calling for engineered microbial strains
title_sort clovebiotech complex structural variant calling for engineered microbial strains
topic structural variations
genomic rearrangements
genetic engineering
url https://doi.org/10.1515/cdbme-2023-1210
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