[ensembl-dev] Pathogenicity predictions

Sarah Hunt seh at ebi.ac.uk
Wed Jan 2 12:36:54 GMT 2019


Hi Michael,

We have not changed the way these scores can be used in VEP - data files 
need to be downloaded directly from the providers and incorporated via 
the relevant plugins:

https://github.com/Ensembl/VEP_plugins/blob/release/94/CADD.pm

https://github.com/Ensembl/VEP_plugins/blob/release/94/dbNSFP.pm

We don't redistribute these data as they are not necessarily free for 
commercial use.

Best wishes,

Sarah

On 28/12/2018 20:43, Michael Yourshaw wrote:
> I see that Ensembl 94 added some desirable new pathogenicity 
> predictions: CADD, REVEL, MetaLR, and MutationAssessor.
>
> Are these available for the VEP 94 Perl API script with cache, or will 
> they be available in version 95?
>
> Thanks,
>
>> Michael Yourshaw
> myourshaw at gmail.com <mailto:myourshaw at ucla.edu>
>
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