[ensembl-dev] ClinVar Review Status
Sarah Hunt
seh at ebi.ac.uk
Mon Aug 13 14:12:28 BST 2018
Hi Michael,
The ClinVar ReviewStatus isn't available in the cache, but can be
accessed using the Phenotypes plugin:
https://github.com/Ensembl/VEP_plugins/blob/release/93/Phenotypes.pm
This returns all attributes for all phenotypes with optional filtering
by data source. It is only available when using json output format
currently as each variant can return a large amount of data which
doesn't fit well in VCF. We could extend the filtering and enable small
numbers of attributes to be added to VCF.
Best wishes,
Sarah
On 11/08/2018 18:26, Michael Yourshaw wrote:
> VEP provides the annotation CLIN_SIG : ClinVar clinical significance
> of the dbSNP variant
>
> Is there a direct way to get the ClinVar ReviewStatus from VEP?
>
> If not, is ClinVar ReviewStatus available somewhere in the VEP
> cache/database so that it could easily be retreived with a VEP plugin?
>
>
>
> ॐ
> Michael Yourshaw
> myourshaw at gmail.com <mailto:myourshaw at ucla.edu>
>
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