NGS_SNPAnalyzer: a desktop software supporting genome projects by identifying and visualizing sequence variations from next-generation sequencing data

• Published in: Genes & genomics 2020, 42(11), , pp.1311-1317
• Main Authors: Lee, Dong-Jun, Kwon, Taesoo, Kim, Chang-Kug, Seol, Young-Joo, Park, Dong-Suk, Lee, Tae-Ho, Ahn, Byung-Ohg
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Bioinformatics; Biomedical and Life Sciences; Computer graphics; Computer programs; Gene mapping; Genomes; Human Genetics; Life Sciences; Microbial Genetics and Genomics; Next-generation sequencing; Nucleotide sequence; Plant Genetics and Genomics; Quality control; Research Article; Single-nucleotide polymorphism; Software; 생물학
• ISSN: 1976-9571; 2092-9293
• DOI: 10.1007/s13258-020-00997-7

Background Sequence variations such as single nucleotide polymorphisms are markers for genetic diseases and breeding. Therefore, identifying sequence variations is one of the main objectives of several genome projects. Although most genome project consortiums provide standard operation procedures for sequence variation detection methods, there may be differences in the results because of human selection or error. Objective To standardize the procedure for sequence variation detection and help researchers who are not formally trained in bioinformatics, we developed the NGS_SNPAnalyzer , a desktop software and fully automated graphical pipeline. Methods The NGS_SNPAnalyzer is implemented using JavaFX (version 1.8); therefore, it is not limited to any operating system (OS). The tools employed in the NGS_SNPAnalyzer were compiled on Microsoft Windows (version 7, 10) and Ubuntu Linux (version 16.04, 17.0.4). Results The NGS_SNPAnalyzer not only includes the functionalities for variant calling and annotation but also provides quality control, mapping, and filtering details to support all procedures from next-generation sequencing (NGS) data to variant visualization. It can be executed using pre-set pipelines and options and customized via user-specified options. Additionally, the NGS_SNPAnalyzer provides a user-friendly graphical interface and can be installed on any OS that supports JAVA. Conclusions Although there are several pipelines and visualization tools available for NGS data analysis, we developed the NGS_SNPAnalyzer to provide the user with an easy-to-use interface. The benchmark test results indicate that the NGS_SNPAnayzer achieves better performance than other open source tools.