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populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
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CTX SV variants break parser #366

Closed MattWellie closed 1 month ago

MattWellie commented 1 month 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 1 month ago

Solved