Look into higher than expected numbers of large CPX events

broadinstitute / gatk-sv

A structural variation pipeline for short-read sequencing

BSD 3-Clause "New" or "Revised" License

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Look into higher than expected numbers of large CPX events #648

Open epiercehoffman opened 4 months ago

epiercehoffman commented 4 months ago

A recent large cohort had more CPX events > 1Mb than expected. The RD plots for the large CNVs within these complex SVs don't show visible changes in read depth. We should evaluate whether these events are real and if we need to update our approach to CPX resolution for large CNVs / in large cohorts.