GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from...

Area of Science:

• Genomics
• Bioinformatics
• Medical Genetics

Background:

• High-throughput sequencing generates vast amounts of genetic variant data.
• Identifying disease-causing variants from large datasets is computationally challenging for many researchers.
• Existing tools often lack user-friendliness for non-computational experts.

Purpose of the Study:

• To develop a scalable, intuitive, and user-friendly open-source tool for managing and prioritizing genomic variants.
• To assist researchers across disciplines in identifying candidate disease-causing variants.
• To facilitate variant analysis in both basic research and clinical applications.

Main Methods:

• Development of GenESysV (Genome Exploration System for Variants), an open-source software.
• Implementation of a system for storing, managing, prioritizing, and retrieving genetic variants.
• Design of a graphical user interface catering to users with varying computational skills.

Main Results:

• GenESysV efficiently handles large-scale genomic variant datasets (from few to thousands of samples).
• The tool ensures fast data importation and excellent query performance.
• GenESysV offers an intuitive graphical user interface and supports secure data access.

Conclusions:

• GenESysV is the first tool capable of managing large genomic variant datasets with high performance.
• Its user-friendly design benefits researchers without extensive computational expertise.
• The tool is expected to accelerate discoveries of genetic variants underlying human diseases.