ExpansionHunter's results analyser

ExpansionHunter's results analyser allows to process ExpansionHunter's JSON files to view the results in an easy way.

Each allele is compared to the normal and intermediate range as well as to the pathogenic cut-off value for all loci which name matches with our notation (as seen in the database) and coloured depending on the range (in 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, we are also comparing each allele length 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, you only need to select one or multiple JSON files and click the Analyse! button. NB! Selected file(s) will be processed only in your browser and therefore not uploaded to an external server, providing the maximum privacy. This form can be used without an internet connection.

Click here to load an example file and see the results. Please report any issues through the contact form.