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.