Open davmlaw opened 1 year ago
CNV kit writes out VCF records like:
chr1 464423 . N <DEL>
We currently reject these in vcf_clean_and_filter.py due to non-standard (ie GATC-containing) reference base.
vcf_clean_and_filter.py
We should probably just look up the N with the reference base and replace it (which would stop duplication of standard symbolic variants)
Example VCFs are here:
upload/test_data/vcf/cnv/cnvkit.vcf upload/test_data/vcf/cnv/dragen.cnv.vcf
We do use CNVkit in diagnostics, so need this
CNV kit writes out VCF records like:
We currently reject these in
vcf_clean_and_filter.py
due to non-standard (ie GATC-containing) reference base.We should probably just look up the N with the reference base and replace it (which would stop duplication of standard symbolic variants)
Example VCFs are here: