Kristina Benevides
11/04/2025, 12:28 PMANNOTATE_STRUCTURAL_VARIANTS:SVDB_QUERY_DB because the output file returns no variants, although the input file has plenty of variants that should be annotated. It doesn't throw any errors at this point, but it subsequently causes the pipeline to crash at the genmod rank variants step (guessing because there are no variants to rank?)
Below is a table summarising a few variants that are both in the query and reference, and thus should be present in the final file right? Or am I missing something here? Is the issue that the annotation differs between the query/ref? Anyone else seen this problem?
This is a test sampleKristina Benevides
11/04/2025, 12:40 PMBenjamin Story
11/04/2025, 3:03 PMKristina Benevides
11/04/2025, 3:40 PMError: frequency or hit tag not found! Make sure to set the --in_occ AND --in_frq to the number and frequency of alleles/individuals as presented in the INFO column of the input db
As described in the git issue, I have removed the CNVs from the gnomad file. Hopefully it works now.
It was confusing though because the pipeline would disregard this error, and instead crash on RANK_VARIANTS_SV:GENMOD_SCORE because the input was emptyBenjamin Story
11/17/2025, 10:13 AM