GeneSetPheno a web application for the integration, summary, and visualization of gene and variant–phenotype associations across gene sets
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.
Citation
@article{han2025,
author = {Han, Jiru and F Gerring, Zachary and Wang, Longfei and
Bahlo, Melanie},
title = {GeneSetPheno a Web Application for the Integration, Summary,
and Visualization of Gene and Variant–Phenotype Associations Across
Gene Sets},
journal = {Bioinformatics Advances},
volume = {5},
number = {1},
date = {2025-04-17},
url = {https://doi.org/10.1093/bioadv/vbaf078},
doi = {10.1093/bioadv/vbaf078},
langid = {en},
abstract = {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.}
}