nf-core / raredisease

Call and score variants from WGS/WES of rare disease patients.

https://nf-co.re/raredisease

MIT License

85 stars 34 forks source link

Closed jemten closed 9 months ago

jemten commented 1 year ago

Would be nice to add the functionality to call mobile element insertions, especially in protein coding regions. Programs we can use include:

This would be a subworkflow including annotation, merging and possibly ranking

jemten commented 1 year ago

@peterpru, let's discuss this before you start

jemten commented 9 months ago

done in

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