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From  Wed Dec 13 13:55:18 2017
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From: Frank Nicholas <> 
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To: OMIA-Supporters <>
Subject: Announcing a new version of OMIA!
Date: Wed, 13 Dec 2017 13:55:18 -0600

Dear OMIA supporters,

It took longer than I had initially mentioned in my previous message back
in July, but I am very pleased to let you know that a new version of OMIA
went public on Monday, with sortable, downloadable tables of >900 likely
causal variants in (more-or-less) standard format; and with a new global

For more details, see the user guide available from the Help tab on the
home page.

As I say in that guide,

"The information in the variant tables has been compiled manually since
2013 by FN, incorporating information from other acknowledged sources.
Ensembl's Variant Effect Predictor (VEP) has been an invaluable tool in
verifying particular variants and in providing genomic locations. There are
many variants with only a verbal description or with incomplete information
and, no doubt, there are many errors. There are also many variants with
absent or incomplete breed and other information. FN urges anyone who has
variant information that should be included [or has spotted errors that
require correction] to contact him at

As is also mentioned in the guide,

"Given that fewer than 10% of variants in the OMIA tables have an rs ID at
present, there is a serious need for authors to submit all newly-discovered
likely causal variants [to EVA], and for a big effort to do the same for
the backlog. FN is working with Gary Saunders and other EVA personnel to
facilitate the submission process"

In the new year, I shall be in touch with various people to help with beta-
testing the submission of backlog variants to EVA.

This new version of OMIA was made possible by the amazing efforts of
software engineer Josh Stretton, whose services were generously provided by
the University of Sydney via its Sydney Informatics Hub and Centre for
Translational Data Science.



* For an up-to-date list of animal traits/disorders characterised at the DNA
  level, and for tables of likely causal variants,
* visit Online Mendelian Inheritance in Animals(OMIA):
* To join the OMIA Support Group, register at
* OMIA celebrated its 20th birthday on 26 May 2015!



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