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

Author:

Karabayev Daniyar1,Molkenov Askhat1,Yerulanuly Kaiyrgali12,Kabimoldayev Ilyas1,Daniyarov Asset1,Sharip Aigul1,Seisenova Ainur1,Zhumadilov Zhaxybay13,Kairov Ulykbek1

Affiliation:

1. Laboratory of Bioinformatics and Systems Biology, Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Nur-Sultan, Kazakhstan

2. L.N. Gumilyov Eurasian National University, Nur-Sultan, Kazakhstan

3. School of Medicine, Nazarbayev University, Nur-Sultan, Kazakhstan

Abstract

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).

Funder

Committee of Science, Ministry of Education and Science of the Republic of Kazakhstan

Publisher

PeerJ

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,General Medicine,General Neuroscience

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