STRipy
Graphical application
STRipy's graphical application uses cloud-genotyping for short tandem repeats in aligned Illumina WGS/WES or targeted sequencing files.
STRs database
The STRs database houses information about known pathogenic STR loci. For each locus, it provides a concise research paper summary, coordinates for various reference genomes (hg19, hg38 and hs1), motifs, repeat ranges (normal, intermediate, pathogenic) and associated diseases, including their onset and inheritance modes. Population-wide repeat frequencies are provided for each locus.
View the STRs databaseSTRipy's software
STRipy-pipeline
Command-line version
STRipy-pipeline is available for large-scale analysis of STRs, supporting parallel processing and the telomere-to-telomere reference genome.
STRs analysis protocol
Published in Current Protocols (Bioinformatics)
Step-by-step instructions for genotyping known pathogenic repeats with STRipy or ExpansionHunter, conducting genome-wide tandem repeat analysis and discovering novel expansions.
ExpansionHunter online tools
Variant catalogue creator
Generate variant catalogues compatible with ExpansionHunter software. This tool covers all loci in the STRs database, supports the main human reference genomes and includes predefined off-target regions for genotyping long repeats.
Results analyser
Process ExpansionHunter output files to generate graphical reports. These reports make it easy to notice results that are in the intermediate or pathogenic range, as well as population outliers.