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Improve RD testing to recover overlapped CNVs > 100 kbp #851
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Description
This PR includes code to improve the depth testing methods in order to capture large CNVs that are overlapped by another CNV of a different SV type but called as two distinct events.
During our DRAGEN-SV benchmarking evaluations, we noticed 3 real CNVs > 100 kbp that were dropped following
FilterBatchSites
. Upon closer inspection of their characteristics, we came to the conclusion that:RD_log_pval
values for these CNVs being shockingly low, despite the CNVs clearly appearing to be real events.This PR introduces the following enhancements to ensure that such CNVs are not dropped:
singlesampZ
test now uses a robust z-score based on median depths rather than means, which is distorted when there is an overlapping event of a different SV type in the background.twosampPerm
test: TBD.Testing
TODO
Pre-Merge Changes Required
RdTestV2.R
.