CAG repeats report

[nliorni]

Greetings,

is there an output format produced by RepeatDetector that includes a report for the CAG repeats in the two alleles (two main peaks) for each sample? Or just the histogram is returned?
Thanks so much in advance,
Best,
NL

[rubanrex]

Hello,

Please find the upgraded GUI featuring user-selectable restrictive vs. permissive profiles and integrated instability indices here:

https://zenodo.org/records/15721525

*Currently works only on macOS.

This plots the results along with mode and generating a txt file. Instability index calculation is based on methodologies detailed in the following article: https://doi.org/10.1186/1752-0509-4-29.

Important Note: The current version of the script considers the highest peak by default.

Feel free to reach out if you require assistance with the script modifications or have any further questions regarding our analysis pipeline.