STRipy
2022–...Genotyping of known pathogenic short tandem repeats
STRipy is available as both a graphical application and a separate command-line tool for analysing known disease-associated short tandem repeat loci in short-read sequencing data. The graphical version can be used on Linux and macOS systems, requires no bioinformatics knowledge and does not require additional tools to be installed. By selecting a BAM file and a chosen STR locus, the locus can be genotyped on the fly using the free STRipy cloud service.
The "STRipy-pipeline" version is a command-line tool designed for integration into clinical pipelines running on HPC systems. It supports parallel computing and large-scale analysis. STRipy incorporates pathogenic thresholds derived from the literature and population-wide genotyping data, enabling users to easily identify individuals who may be at risk of a repeat expansion disorder.