Describe the bug
A clear and concise description of what the bug is.
To Reproduce
- Run test suite and inspect
test_sv results
output: sv.vcf.gz
capice annotation output: sv_chunk0_capice_output.tsv.gz
Expected behavior
Output sv.vcf.gz contains CAPICE scores
Additional context
CAPICE VEP plugin uses the value in the CSQ-column, e.g.
17 14093499 . T <DEL> 0 . CSQ=deletion
and compares this with the CAPICE output:
17 14093499 T <DEL> PMP22 5376 EntrezGene NM_000304.4 Transcript 0.08634275 VUS
for a <DEL> allele and probably also other situations this does not match.
Instead the ALLELE_NUM containing an allele index should be used to match on ALT allele. This requires changes to CAPICE?
Other plugins might suffer from the same issue?
Describe the bug
A clear and concise description of what the bug is.
To Reproduce
test_svresultsoutput: sv.vcf.gz
capice annotation output: sv_chunk0_capice_output.tsv.gz
Expected behavior
Output
sv.vcf.gzcontains CAPICE scoresAdditional context
CAPICE VEP plugin uses the value in the CSQ-column, e.g.
17 14093499 . T <DEL> 0 . CSQ=deletionand compares this with the CAPICE output:
17 14093499 T <DEL> PMP22 5376 EntrezGene NM_000304.4 Transcript 0.08634275 VUSfor a
<DEL>allele and probably also other situations this does not match.Instead the
ALLELE_NUMcontaining an allele index should be used to match on ALT allele. This requires changes to CAPICE?Other plugins might suffer from the same issue?