RE-SEARCHER: GUI-BASED BIOINFORMATICS TOOL FOR SIMPLIFIED GENOMICS DATA MINING OF VCF FILES
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Date
2021-05-03
Authors
Karabayev, Daniyar
Molkenov, Askhat
Yerulanuly, Kaiyrgali
Kabimoldayev, Ilyas
Daniyarov, Asset
Sharip, Aigul
Seisenova, Ainur
Zhumadilov, Zhaxybay
Kairov, Ulykbek
Journal Title
Journal ISSN
Volume Title
Publisher
PeerJ
Abstract
High-throughput sequencing platforms generate a massive amount of
high-dimensional genomic datasets that are available for analysis. Modern and userfriendly
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).
Description
Keywords
Type of access: Open Access, Genome analysis, Genomics, Bioinformatics, Genomics data mining, NGS data analysis, Variant call format, VCF
Citation
Karabayev, D., Molkenov, A., Yerulanuly, K., Kabimoldayev, I., Daniyarov, A., Sharip, A., Seisenova, A., Zhumadilov, Z., & Kairov, U. (2021). re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files. PeerJ, 9, e11333. https://doi.org/10.7717/peerj.11333