Request to add several repeat expansions

[bopohdr]

Hi !

There is a nice new review of RE-disorders came out: https://doi.org/10.1186/s40478-021-01201-x And I noticed that there are several RE are missing in the current variant file, including:

1. ARX (also summarized here: https://doi.org/10.1002/mgg3.133 )
2. PRNP
3. LRP12
4. NUTM2B-AS1
5. BEAN1
6. DAB1 I realize that some of them are technically not possible (or not worth) to implement, but have you considered including some of them into the variant catalogue file?

Thanks!

[egor-dolzhenko]

Thanks! We will definitely evaluate these repeats. Meanwhile, please consider using larger catalogs distributed with stranger by @dnil and @moonso.

FYI @yjqiu

[katerinaoleynikova]

According to the request list of loci by @bopohdr, almost all of them were exactly made by @dnil in his stranger tool. However, PRNP and NUTM2B-AS1 are still missing. I'll try find smth too for expansion of variant catalog file.

Best wishes, K