STRipy's online resources

STRipy's online resources comprise a curated database for short tandem repeats (STRs) and online tools that support the utilisation of ExpansionHunter software.

STRs database houses information about known pathogenic STR loci. For each locus, it provides concise research paper summary, details like coordinates for various reference genomes (hg19, hg38 & hs1), motifs, repeat ranges (normal, intermediate, pathogenic) and associated diseases, including their onset and inheritance modes. Moreover, population-wide repeat frequencies are provided for each locus.

ExpansionHunter online tools contain firstly, the Variant catalogue creator that allows to generate variant catalogues compatible with ExpansionHunter software. This tool covers all loci in the STRs database, supports main human reference genomes and includes pre-defined off-target regions that enables to genotype long repeats. Catalogue content can be customised - either select specific loci or utilise predefined groups, such as those associated with neurological diseases, childhood/adult onset conditions, repeats in coding regions, UTRs or introns. Secondly, Results analyser processes ExpansionHunter output files to generate graphical reports. These reports make it very easy to notice any results that are in intermediate or pathogenic range as well as those which are population outliers.