github.com/broadinstitute/TAG-public/CNV_BLAST

This WDL script validates DRAGEN CNV calls by cross-referencing them against a ground truth, and utilizes BLAST to search for the CNV sequence in the HG002 T2T and hg38 references, outputting the number of significant matches in each.


This is a companion discussion topic for the original entry at github.com/broadinstitute/TAG-public/CNV_BLAST