GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects

BMC Bioinformatics

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[1] 0000 0004 1936 9887, grid.273335.3, Center for Computational Research, University at Buffalo, Buffalo, NY, USA;0000 0004 1936 9887, grid.273335.3, Center for Computational Research, University at Buffalo, Buffalo, NY, USA;0000 0004 1936 9887, grid.273335.3, Buffalo Institute for Genomics and Data Analytics, University at Buffalo, Buffalo, NY, USA;

关键词: High-throughput sequencing;    Genotyping;    Genome;    VCF;    WGS;    WES;    Variants;    Annotation;    Mendelian diseases;    Complex diseases;   

DOI  :  10.1186/s12859-019-2636-5

来源: publisher

【 摘 要 】

BackgroundHigh throughput sequencing technologies have been increasingly used in basic genetic research as well as in clinical applications. More and more variants underlying Mendelian and complex diseases are being discovered and documented using these technologies. However, identifying and obtaining a short list of candidate disease-causing variants remains challenging for most of the users after variant calling, especially for people without computational skills.ResultsWe developed GenESysV (Genome Exploration System for Variants) as a scalable, intuitive and user-friendly open source tool. It can be used in any high throughput sequencing or genotyping project for storing, managing, prioritizing and efficient retrieval of variants of interest. GenESysV is designed for use by researchers from a wide range of disciplines and computational skills, including wet-lab scientists, clinicians, and bioinformaticians.ConclusionsGenESysV is the first tool to be able to handle genomic variant dataset ranging in size from a few to thousands of samples and still maintain fast data importation and good query performance. It has a very intuitive graphical user interface and can also be used in studies where secured data access is an important concern. We believe this tool will benefit the human disease research community to speed up discoveries for genetic variants underlying human genetic disorders.

【 授权许可】

CC BY