Abstract
AbstractSummaryImputAccur is a software tool for genotype-imputation accuracy-measures. Imputation of untyped markers is a standard approach in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However high accuracy for imputed genotypes is fundamental. Several accuracy measures have been proposed, but unfortunately, they are implemented on different platforms, which is impractical. With ImputAccur the accuracy measures info, Iam-hiQ and r²based indices can be derived from standard output-files of imputation software. Sample/probe and marker filtering is possible. This allows e.g. accurate marker filtering ahead of data analysis. A Python code is available but also a stand-alone executable file.Availability and ImplementationThe source code (Python version 3.9.4), a stand-alone executive file, and example data for ImputAccur are freely available at https://gitlab.gwdg.de/kolja.thormann1/imputationquality.git.Supplementary InformationSupplementary information is available at Bioinformatics online.Contactarosenb@gwdg.de or koljaalexander.thormann@uni-goettingen.de
Publisher
Cold Spring Harbor Laboratory