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Polyphen_SIFT: allow flexibility in choosing tools #763

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@nakib103 nakib103 commented Jan 7, 2025

https://www.ebi.ac.uk/panda/jira/browse/ENSVAR-6567

Required in VEP in new infrastructure in absence of VEP cache.

Allow users to chose what score they want. Added following options -

  • sift - [p|s|b|o] works similarly as --sift option in VEP. The value o turns off SIFT score/prediction.
  • polyphen - [p|s|b|o] same as sift for PolyPhen humvar.
  • humdiv - [p|s|b|o] same as sift for PolyPhen humdiv.

Test

vep --id "1 230710048 . A G" --cache /nfs/production/flicek/ensembl/variation/data/VEP/tabixconverted --cache_version 113 --offline --force --plugin PolyPhen_SIFT,db=homo_sapiens.PolyPhen_SIFT.db,humdiv=b,polyphen=o -a GRCh38

Try using different permutation of the options.

@likhitha-surapaneni likhitha-surapaneni self-requested a review January 7, 2025 11:32
@likhitha-surapaneni likhitha-surapaneni self-assigned this Jan 7, 2025
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Thanks Nakib, the code works as expected for all the test cases. Added a comment if it helps to run faster

@@ -250,16 +274,21 @@ sub run {
my ($tool, $analysis) = split('_', $tool_string);
my $lc_tool = lc($tool);

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Do we want to run the plugin even when all the three tools have "o"

Suggested change
return {} if $self->{sift} eq 'o' && $self->{polyphen} eq 'o' && $self->{humdiv} eq 'o';

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2 participants