[ensembl-dev] VEP: Is it possible to add LRG annotations?

Andrew Carson acarson at invivoscribe.com
Mon Mar 31 22:24:54 BST 2014


Hi ensembl-dev team,
I was just wondering if there are plans to incorporate the LRG (locus reference genomic) records into the VEP annotation pipeline (from here: http://www.lrg-sequence.org/home). I only ask because in the HGVS new clinical reporting guidelines they recommend using the LRG sequence (if one is present) to standardize variant reporting.

It would also be very useful to have an option where, if a variant overlaps an LRG, you can choose to "pick" that consequence over other consequences.

Any thoughts on if this could be added to the development for the next release cycle?

Thanks for all of your help!

Andrew R. Carson, Ph.D.

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