NETMAGE
NETMAGE generates disease-disease networks from summarized Phenome-Wide Association Study (PheWAS) results by representing phenotypes as nodes and shared genetic associations as edges to enable analysis of pleiotropy and shared genetic architecture.
Key Features:
- Network construction: Constructs disease-disease networks from summarized PheWAS results with nodes representing distinct phenotypes and edges representing shared genetic associations.
- SNP mapping: Maps single nucleotide polymorphisms (SNPs) to associated phenotypes and records shared SNP associations between phenotypes.
- Pleiotropy identification: Detects instances where single genetic loci are associated with multiple phenotypic traits.
- Dataset compatibility: Supports analysis using PheWAS summary data such as UK Biobank PheWAS summary results.
- Network statistics: Computes and reports network-level metrics and phenotype-relationship statistics derived from shared genetic associations.
Scientific Applications:
- Pleiotropy discovery: Identification of pleiotropic loci influencing multiple phenotypes from PheWAS summary data.
- Shared genetic architecture analysis: Exploration of genetic overlap and relationships among phenotypic traits.
- Hypothesis generation for genomic research: Prioritization of shared genetic components for downstream studies, including potential target identification.
Methodology:
Integrates summarized PheWAS results by mapping phenotypic traits as network nodes and establishing edges based on shared genetic associations, including shared SNP associations, then derives network statistics.
Topics
Details
- License:
- MIT
- Tool Type:
- command-line tool, web application
- Programming Languages:
- JavaScript, Python
- Added:
- 1/18/2021
- Last Updated:
- 3/8/2021
Operations
Publications
Sriram V, Shivakumar M, Jung S, Bang L, Verma A, Lee S, Choe EK, Kim D. NETMAGE: a humaN-disEase phenoType MAp GEnerator for the Visualization of PheWAS. Unknown Journal. 2020. doi:10.1101/2020.10.27.357103.
Links
Repository
https://github.com/dokyoonkimlab/netmage