update annotations

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Andrea Spinelli

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Mar 1, 2018, 10:14:40 AM3/1/18
to gemini-variation
Hi!
Awesome tool, thanks a lot.

I use Gemini to annotate variant, post VEP annotation. Today several annotation tracks and resources are old, for example, there is no GRCh38 resource.
How can I update the various resources?

Thanks for your answer.

Andrea

Brent Pedersen

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Mar 1, 2018, 10:30:22 AM3/1/18
to Andrea Spinelli, gemini-variation
hi,
the annotations that come with gemini are fixed to hg19. However, you
can use any
annotations (and genome build) you like if you use the new loader:
https://github.com/quinlan-lab/vcf2db/
we recommend to annotate your VCF with VEP and vcfanno and then use
vcf2db to load.
You can read more about this here:
http://quinlanlab.org/blog/2016/05/02/gemini-2-progress.html

-Brent

Andrea Spinelli

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Mar 1, 2018, 10:36:38 AM3/1/18
to gemini-variation
Thank you Brent!
I will follow yourindications.

Andrea
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