varfish-org / varfish-server

VarFish: comprehensive DNA variant analysis for diagnostics and research
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Allow integration of repeat expansions #298

Open holtgrewe opened 2 years ago

holtgrewe commented 2 years ago

Is your feature request related to a problem? Please describe. We currently cannot properly include repeat expansion, e.g., as called by expansion hunter.

Describe the solution you'd like Integrate expansion hunter output files.

Describe alternatives you've considered N/A

Additional context

xiamaz commented 1 year ago

Some comments regarding repeat expansion formats:

https://github.com/Illumina/ExpansionHunter/blob/master/docs/06_OutputVcfFiles.md

Example repeat expansion output by expansionhunter: image

The genotype field might be almost unusable and we will need to somehow convey the information for the number of repeats contained. Some issues:

The range of repeats considered normal can vary greatly. Should this kind of information be stored somewhere? Expansionhunter results are already being transferred for CADS and it would be very useful to integrate it in some manner.

xiamaz commented 4 months ago

A good database for info on repeats is stripy: https://stripy.org/database

Still need to check their data usage permissions.