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re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files

BACKGROUND: High-throughput sequencing platforms generate a massive amount of high-dimensional genomic datasets that are available for analysis. Modern and user-friendly bioinformatics tools for analysis and interpretation of genomics data becomes essential during the analysis of sequencing data. Di...

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Autores principales: Karabayev, Daniyar, Molkenov, Askhat, Yerulanuly, Kaiyrgali, Kabimoldayev, Ilyas, Daniyarov, Asset, Sharip, Aigul, Ashenova, Ainur, Zhumadilov, Zhaxybay, Kairov, Ulykbek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101456/
https://www.ncbi.nlm.nih.gov/pubmed/33987016
http://dx.doi.org/10.7717/peerj.11333
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author Karabayev, Daniyar
Molkenov, Askhat
Yerulanuly, Kaiyrgali
Kabimoldayev, Ilyas
Daniyarov, Asset
Sharip, Aigul
Ashenova, Ainur
Zhumadilov, Zhaxybay
Kairov, Ulykbek
author_facet Karabayev, Daniyar
Molkenov, Askhat
Yerulanuly, Kaiyrgali
Kabimoldayev, Ilyas
Daniyarov, Asset
Sharip, Aigul
Ashenova, Ainur
Zhumadilov, Zhaxybay
Kairov, Ulykbek
author_sort Karabayev, Daniyar
collection PubMed
description BACKGROUND: High-throughput sequencing platforms generate a massive amount of high-dimensional genomic datasets that are available for analysis. Modern and user-friendly bioinformatics tools for analysis and interpretation of genomics data becomes essential during the analysis of sequencing data. Different standard data types and file formats have been developed to store and analyze sequence and genomics data. Variant Call Format (VCF) is the most widespread genomics file type and standard format containing genomic information and variants of sequenced samples. RESULTS: Existing tools for processing VCF files don’t usually have an intuitive graphical interface, but instead have just a command-line interface that may be challenging to use for the broader biomedical community interested in genomics data analysis. re-Searcher solves this problem by pre-processing VCF files by chunks to not load RAM of computer. The tool can be used as standalone user-friendly multiplatform GUI application as well as web application (https://nla-lbsb.nu.edu.kz). The software including source code as well as tested VCF files and additional information are publicly available on the GitHub repository (https://github.com/LabBandSB/re-Searcher).
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spelling pubmed-81014562021-05-12 re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files Karabayev, Daniyar Molkenov, Askhat Yerulanuly, Kaiyrgali Kabimoldayev, Ilyas Daniyarov, Asset Sharip, Aigul Ashenova, Ainur Zhumadilov, Zhaxybay Kairov, Ulykbek PeerJ Bioinformatics BACKGROUND: High-throughput sequencing platforms generate a massive amount of high-dimensional genomic datasets that are available for analysis. Modern and user-friendly bioinformatics tools for analysis and interpretation of genomics data becomes essential during the analysis of sequencing data. Different standard data types and file formats have been developed to store and analyze sequence and genomics data. Variant Call Format (VCF) is the most widespread genomics file type and standard format containing genomic information and variants of sequenced samples. RESULTS: Existing tools for processing VCF files don’t usually have an intuitive graphical interface, but instead have just a command-line interface that may be challenging to use for the broader biomedical community interested in genomics data analysis. re-Searcher solves this problem by pre-processing VCF files by chunks to not load RAM of computer. The tool can be used as standalone user-friendly multiplatform GUI application as well as web application (https://nla-lbsb.nu.edu.kz). The software including source code as well as tested VCF files and additional information are publicly available on the GitHub repository (https://github.com/LabBandSB/re-Searcher). PeerJ Inc. 2021-05-03 /pmc/articles/PMC8101456/ /pubmed/33987016 http://dx.doi.org/10.7717/peerj.11333 Text en ©2021 Karabayev et al. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits using, remixing, and building upon the work non-commercially, as long as it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited.
spellingShingle Bioinformatics
Karabayev, Daniyar
Molkenov, Askhat
Yerulanuly, Kaiyrgali
Kabimoldayev, Ilyas
Daniyarov, Asset
Sharip, Aigul
Ashenova, Ainur
Zhumadilov, Zhaxybay
Kairov, Ulykbek
re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files
title re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files
title_full re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files
title_fullStr re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files
title_full_unstemmed re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files
title_short re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files
title_sort re-searcher: gui-based bioinformatics tool for simplified genomics data mining of vcf files
topic Bioinformatics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101456/
https://www.ncbi.nlm.nih.gov/pubmed/33987016
http://dx.doi.org/10.7717/peerj.11333
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