search

populationgenomics / talos

Rare Disease variant reanalysis tool
MIT License
6 stars 4 forks source link

CTX SV variants break parser #366

Closed MattWellie closed 7 months ago

MattWellie commented 7 months ago

CTX

SVTYPE=CTX. BreakDancer-style notation used by TIGRA to indicate an inter-chromosomal breakpoint

These variants don't have an SVLEN attribute, that would make no sense. Parser needs to handle breakpoints like this.

https://batch.hail.populationgenomics.org.au/batches/435991

MattWellie commented 7 months ago

Solved