[ensembl-dev] Incorrect pSyntax calculation for indels
S Venkata Suresh Kumar
suresh.surampudi at india.semanticbits.com
Mon Mar 12 09:28:09 GMT 2012
Hi
It seems VEP fails to calculate pSyntax correct for indel (delins)
variants. For eg. for NM_002168.2:c.1358delAinsTAAAGCGT, calculated
pSyntax (by VEP) HGVSp=NP_002159.2.1:p.X453LeufsextX42, which is incorrect.
corresponding vcf record is:
##fileformat=VCFv4.0
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE_NAME
chr15 90627498 6 CT CACGCTTTA 100 PASS Gene=IDH2 GT:DP 1/1:100
For this VCF record, cSyntax calculation is correct, but not pSyntax
calculation.
I guess we may have to have more test cases for testing vep script, at
least for delins.
--
Regards
vs
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