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From  Fri Mar  3 07:36:23 2017
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From: Frank Nicholas <> 
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To: OMIA-Supporters <>
Subject: Limited representation of likely causal variants in NCBI and EBI databases
Date: Fri, 03 Mar 2017 07:36:24 -0600

Dear OMIA supporters,

I've now had responses from curators of the variant databases at NCBI (Lon
Phan) and EBI (Gary Saunders and Cristina Yenyxe González García). These
three people are in regular contact, and (as many of you will already know)
their databases have reciprocal sharing arrangements. Lon is happy for Gary
and Cristina to take the lead in considering the need for a simple tool for
submitting single variants. To this end I've had a very constructive hour-
long discussion and some follow-up emails with Gary and Cristina. They now
have a clear understanding of the type of information that could be submitted
with a likely causal variant, and are now seriously considering the
feasibility of creating a simple submission tool. Cristina is also generously
having a close look at the extent to which OMIA likely causal variants are
presently in databases, and the feasibility of submitting the backlog.

                While Gary and Cristina have (understandably) not made any
promises, there is a reasonable chance that something useful will result.

                I will be back in touch as soon as there is anything to report.




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