GenPlay Multi-Genome, a tool to compare and analyze multiple human genomes in a graphical interface

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• The increasing generation of personal, phased, and cancer genomes necessitates advanced tools for parallel visualization.
• Comparing multiple individual human genomes requires displaying unique variants (SNPs, indels, structural variants) and handling reference sequence gaps.

Purpose of the Study:

• To introduce GenPlay Multi-Genome, a novel application for the parallel visualization and analysis of multiple human genomes.
• To provide a graphical interface for comparing allele-specific expression and functional genomic data across phased genomes.

Main Methods:

• Development of GenPlay Multi-Genome, a specialized application for multi-genome visualization.
• Implementation of multi-track operation for detailed graphical analysis.
• Support for custom genome alignments and comparison of different genome assemblies (e.g., hg19, hg38).

Main Results:

• GenPlay Multi-Genome facilitates the display of unique variants and overlapping gaps across multiple genomes.
• The application enables comparison of allele-specific expression and functional genomic data in a user-friendly interface.
• It functions as a variant calling format file browser and a tool for genome assembly comparison.

Conclusions:

• GenPlay Multi-Genome addresses the growing need for parallel visualization of multiple human genomes.
• The tool is well-suited for comparative genomics, functional genomics analysis, and variant data exploration.
• It offers flexibility by supporting custom references and multiple genome assemblies.