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Updated: May 10, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
GeneSetPheno: a web application for the integration, summary, and visualization of gene and variant-phenotype
Jiru Han1,2, Zachary F Gerring1,2, Longfei Wang1,2
1Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
Motivation:
The comprehensive study of genotype-phenotype relationships requires the integration of multiple data types to "triangulate" signals and derive meaningful biological conclusions. Large-scale biobanks and public resources generate a wealth of comprehensive results, facilitating the discovery of associations between genes or genetic variants and multiple phenotypes. However, analyzing these data across resources presents several challenges, including limited flexibility in gene set analysis, the integration of multipe databases, and the need for effective data visualization to aid interpretation.
Results:
GeneSetPheno is a user-friendly graphical interface that integrates, summarizes, and visualizes gene and variant-phenotype associations across genomic resources. It allows users to explore interrelationships between genetic variants and phenotypes, offering insights into the genetic factors driving phenotypic variation within user-defined gene sets. GeneSetPheno also supports comparisons across gene sets to identify shared or unique genetic variants, phenotypic associations, biological pathways, and potential gene-gene interactions. GeneSetPheno is a free and highly configurable tool for exploring the complex relationships between gene sets, genetic variants, and phenotypes. Target users include molecular biologists and clinicians who wish to explore a gene or gene set of particular interest.
Availability And Implementation:
GeneSetPheno is freely accessible at: https://shiny.wehi.edu.au/han.ji/GeneSetPheno/. The source code is available on GitHub at: https://github.com/bahlolab/GeneSetPheno.
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