KidneyGPS
KidneyGPS prioritizes genes and genetic variants associated with kidney function by integrating GWAS-derived evidence to support post-GWAS interpretation and experimental follow-up.
Key Features:
- Integration of GWAS Data: Integrates GWAS associations for estimated glomerular filtration rate (eGFR) from the Chronic Kidney Disease Genetics (CKDGen) consortium covering 424 GWAS loci and 35,885 variants within the 99% credible sets of 594 independent signals.
- SNP-to-Gene Mapping: Annotates genetic variants with functional or regulatory effects and maps SNPs to candidate genes.
- Gene-to-Phenotype Correlation: Links genes to kidney phenotypes observed in mice and humans.
- Drugability Assessment: Aggregates data on gene drugability to inform therapeutic target identification and drug repurposing.
- Customizable Gene Prioritization (GPS): Generates customizable prioritized gene lists based on known kidney phenotypes or variant-level statistical support.
Scientific Applications:
- Hypothesis Generation: Generates hypotheses about kidney physiology and disease etiology from GWAS and post-GWAS analyses.
- Target Prioritization: Prioritizes genes and variants for experimental validation and therapeutic target discovery, including candidate selection for drug repurposing.
- Post-GWAS Interpretation: Supports interpretation of eGFR-associated loci from CKDGen for downstream translational and functional studies.
Methodology:
Integrates CKDGen eGFR GWAS associations; compiles 99% credible sets (35,885 variants across 594 independent signals within 424 loci); annotates variants for functional and regulatory effects; performs SNP-to-gene mapping; collates mouse and human kidney phenotype associations; aggregates gene drugability annotations; and provides filters to generate prioritized gene lists.
Topics
Details
- License:
- CC-BY-4.0
- Cost:
- Free of charge
- Tool Type:
- web application
- Operating Systems:
- Mac, Linux, Windows
- Programming Languages:
- R
- Added:
- 3/18/2024
- Last Updated:
- 11/24/2024
Operations
Publications
Stanzick KJ, Stark KJ, Gorski M, Schödel J, Krüger R, Kronenberg F, Warth R, Heid IM, Winkler TW. KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies. BMC Bioinformatics. 2023;24(1). doi:10.1186/s12859-023-05472-0. PMID:37735349. PMCID:PMC10512588.