biothings / myvariant.info

MyVariant.info: A BioThings API for human variant annotations
http://myvariant.info
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Adding computed VEP variant annotations to MyVariant.info #41

Open newgene opened 6 years ago

newgene commented 6 years ago

VEP: http://uswest.ensembl.org/info/docs/tools/vep/index.html

Similar to the SnpEff annotation we have already, VEP is a tool to compute variant impact.

bwalsh commented 6 years ago

This would be a useful feature for the following story.

As a researcher, in order to find more evidence for a particular allele, I would like the system to match by:

* protein effect
* protein domain
* pathway

More: https://github.com/ohsu-comp-bio/g2p-aggregator/issues/109