ISNPranker
ISNPranker integrates heterogeneous SNP prediction outputs by mapping ordinal predictions into a numerical space and averaging them to rank coding single nucleotide polymorphisms (cSNPs) by predicted deleterious impact.
Key Features:
- Integration of Heterogeneous Outputs: Consolidates outputs from multiple publicly available SNP analyzers to provide a unified set of predictions for cSNPs.
- Numerical Mapping and Averaging: Transforms ordinal predictions into a numerical space and averages the mapped values to produce integrated prediction scores.
- Ranking System: Ranks coding SNPs into levels of potential deleterious impact based on the integrated prediction scores.
Scientific Applications:
- cSNP impact analysis: Assessment of coding single nucleotide polymorphisms (cSNPs) to determine potential effects on gene structure and function.
- AHR gene case study: Applied to 40 validated cSNPs in the human aryl hydrocarbon receptor (AHR) gene using 16 SNP analyzers, identifying rs200257782 as the most deleterious variant within the ARNT dimerization domain (ADD 121-289).
Methodology:
Collects predictions from multiple SNP analyzers; maps ordinal predictions into a numerical space; averages mapped values to generate an integrated prediction score; and ranks SNPs into levels of potential deleterious impact.
Topics
Details
- Tool Type:
- api
- Added:
- 1/18/2021
- Last Updated:
- 11/24/2024
Operations
Publications
Aftabi Y, Rafei S, Zarredar H, Amiri-Sadeghan A, Akbari-Shahpar M, Khoshkam Z, Seyedrezazadeh E, Khalili M, Mehrnejad F, Fereidouni S, Lawrence BP. Refinement of coding SNPs in the human aryl hydrocarbon receptor gene using ISNPranker: An integrative-SNP ranking web-tool. Computational Biology and Chemistry. 2021;90:107416. doi:10.1016/j.compbiolchem.2020.107416. PMID:33264727. PMCID:PMC8815319.