ExpansionHunter's results analyser allows to process ExpansionHunter's JSON files to view the results in an easy way. NB! If you would like to annotate VCF files instead, it can be easily done from command line by using STRipy's API annotateVCF.
Each allele is compared to the normal and intermediate range, as well as to the pathogenic cut-off value for all loci whose names match our notation (as seen in the database). They are coloured according to the range: green, orange or red, respectively. Repeat ranges are derived from the literature and those ranges are only indicative not definite (e.g. for many diseases they are not well defined and also interruptions could affect the pathogenicity). Additionally, each allele length is compared to our population data and if the Z-score is at least 3.718 (i.e. 1 in 1000), an asterisk* is displayed next to the repeat length.
To use the online tool, simply select one or multiple JSON files and click the 'Analyse!' button. Note that selected file(s) will be processed only in your browser and not uploaded to an external server, ensuring maximum privacy. This form can be used without an internet connection. Click here to load an example file and see the results.
The 'analysis' is fast and should take less than ~10 seconds for a sample, if longer, there might be a problem. Please contact the developer if this occurs and report any other issues or suggestions through the contact form.