Repeat expansion identification tools for long-read data

Hi,

I am going to work with long-read data from Nanopore for the identification of CGG repeats in FMR1 genes which can cause Fragile X syndrome.

I have been through literature and found some tools: tandem - genotypes, Straglr, TRiCoLOR, DeepRepeat and RepeatHMM.

Can anyone please suggest which among them will be best suitable for the job and also please let me know if there are any other better options?

Thank you

fragilex repeatexpansion long-read fmr1

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written 2.3 years ago by adarsh •

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