AxioSAFE: an accessible, semi-automatic filtering tool for the curation of genotyping datasets

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Authors: Lorenzo Spina, Nicholas P. Howard, Stijn Vanderzande, Giorgio Tumino, Michela Troggio, Eric van de Weg, Diego Micheletti, Luca Bianco
Cited by: 1
References: 18

Abstract

Motivation: array are generally big, as they comprise tens of thousands of markers and hundreds of individuals, and currently, no automatic data curation pipelines are available for this kind of data. This leaves researchers with only time-consuming manual analysis as the current standard for processing these complex genotyping datasets. There is a clear need for a more efficient, streamlined approach to handle the specific quality control challenges inherent in this platform. Results: array experiments. AxioSAFE provides an alternative methodology to cover a set of data curation operations, including steps such as a ploidy check, SNP filtering, Mendelian error analysis, and phasing. AxioSAFE identifies major occurrences of problematic SNPs and samples, including those not caught by the Axiom array default QC filters. Further functionality is included to let the user review identified problematic SNP classes. Availability and implementation: AxioSAFE is a Python program that can be either used via the command line interface or through a graphical user interface (GUI) and is provided as a Docker container available on DockerHub at https://hub.docker.com/r/lzspin/axiosafe, which includes all required libraries, software, and a tutorial dataset. The source code and documentation are available at https://bitbucket.org/lzspin/axiosafe/. The apple dataset used for the development of AxioSAFE is available at DOI: https://doi.org/10.5281/zenodo.18034024.

Fields of Study & Subjects

Genetic Associations and Epidemiology Genomics and Phylogenetic Studies Gene expression and cancer classification

Publication details

Journal / source
Bioinformatics Advances
Publisher
Oxford University Press (OUP)
Volume
6
Issue
1
Pages
vbag062–vbag062
Publication date
1 January 2026
Language
EN