[ensembl-dev] VEP variants missing on output
Guillermo Marco Puche
guillermo.marco at sistemasgenomicos.com
Tue May 21 09:40:47 BST 2013
Hello,
I've been checking VEP results, and i've noticed that I'm missing some
input variants in the output.
I think this may be issued to some of the options i'm using to launch vep:
hgvs 1
canonical 1
ccds 1
check_svs 1
domains 1
gmaf 1
hgnc 1
maf_1kg 1
numbers 1
polyphen b
regulatory 1
sift b
Should be any of these options filtering output? I've disabled all
plugins to run this test to be sure that it's not a plugin issue.
* With a 406 variant input vcf file, I've missed 16 variants.
* I then ran VEP with only those 16 missing variants and missed 3 on
output.
* Rerun again and now with 3 missing variants and now not a single one
was missing.
I would like to know what's behind that weird behaviour.
Thank you.
Best regards,
Guillermo.
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