search

WGLab / NanoRepeat

NanoRepeat: fast and accurate analysis of Short Tandem Repeats (STRs) from Oxford Nanopore sequencing data
MIT License
17 stars 1 forks source link

Are there any plan to add support for repeat unit with IUPAC nucleotides? #9

Open ymcki opened 1 year ago

ymcki commented 1 year ago

Thanks for developing NanoRepeat. From my own testing, it seems to be doing much better than straglr.

However, I find that NanoRepeat doesn't support IUPAC nucleotides in repeat unit but straglr does. It would be great if IUPAC support is added.

If that's too much to ask, is it possible to support poly-alanine repeat which has a repeat unit of GCN?

It occurs in PHOX2B gene and is a well documented trinucleotide repeat disorder. https://academic.oup.com/hmg/article/13/suppl_2/R235/619705

Thanks a lot in advance.

fangli80 commented 1 year ago

Sure. I'm happy to add support for GCN.

Thanks for requesting this. Li

ymcki commented 1 year ago

Great! Looking forward to that in the next release.

eostrow commented 3 months ago

Any updates on this feature?