ImputAccur
ImputAccur assesses genotype-imputation accuracy by computing established imputation quality metrics to inform genome-wide association studies (GWAS) and downstream analyses.
Key Features:
- Accuracy Measures: Calculates established imputation quality metrics including info, Iam-hiQ, and r²-based indices.
- Cross-platform Input Compatibility: Derives accuracy measures from standard output files produced by various imputation software.
- Data Filtering: Supports sample/probe and marker filtering to restrict metric calculations to selected subsets of data.
- Comprehensive Evaluation: Provides multiple complementary metrics to evaluate imputation quality across markers and samples.
Scientific Applications:
- Genome-wide association studies (GWAS): Assess and QC imputed genotypes to ensure reliability of association tests.
- Imputed dataset validation: Evaluate imputation quality per-marker and per-sample to guide inclusion thresholds in downstream analyses.
Methodology:
Computes info, Iam-hiQ, and r²-based indices from standard imputation software output files and applies sample/probe and marker filtering prior to metric calculation.
Topics
Details
- License:
- Other
- Cost:
- Free of charge
- Tool Type:
- command-line tool
- Operating Systems:
- Mac, Linux, Windows
- Programming Languages:
- Python
- Added:
- 10/20/2022
- Last Updated:
- 10/20/2022
Operations
Publications
Thormann KA, Tozzi V, Starke P, Bickeböller H, Baum M, Rosenberger A. ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures. BMC Bioinformatics. 2022;23(1). doi:10.1186/s12859-022-04863-z. PMID:35927623. PMCID:PMC9351229.