populationgenomics / production-pipelines

Genomics workflows for CPG using Hail Batch
MIT License
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Working SV renaming #723

Closed MattWellie closed 2 months ago

MattWellie commented 2 months ago

A couple of issues:

Note: the IDs are somehow not always unique? (There are a few instances of Manta calling the same insertion on consecutive lines, but one will have bothsides_support, and one will not. I'm assuming the calls are not combined due to one having substantially more evidence than the other, so specific genotyping of these may be important.