Variable Copy Number Gene Nomenclature Salt Lake City Meeting Summary
Giving unique and meaningful names to every human gene

Solitude Room, Downtown Marriott Hotel, Salt Lake City, USA (Wednesday October 26th 2005, 4.30-6.30pm)
Sue Povey, Richard Redan, Frank Baas, Alan Scott, Daryl Thomas, Laurens Wilming, Evan Eichler, Elspeth Bruford, Tam Sneddon, Anthony Brookes, Ed Hollox, Lars Feuk, Joanna Amberger, Heather Trumbower, Charles Lee, Steve Scherer, Dick Cotton, Donna Maglott and Ada Hamosh in attendance.

As a result of this meeting the main issues of variable copy number gene nomenclature have now been clarified and are summarised below. Bearing these points in mind we would again like to hear the opinions of the wider research community.

1. It was proposed that a static ‘standard reference genome’, onto which the nomenclature/annotation can be applied, would be useful. If this is agreed which Build should we use?
Please choose:

2. The general consensus was that genes proven to be VCN should be tagged. However, should VCN be limited to an attribute of a gene described in the database entry or should it be made implicit in the gene symbol/name?
Please choose:

3. We need to agree upon a definition of VCN genes in order to distinguish them from segmental duplications present in virtually all humans and from spontaneous or de novo indels/rearrangements e.g. experimental evidence, number of individuals etc. One option would be to use a polymorphism definition: for example the occurrence of two or more alleles for a given locus in a population where the commonest allele has a frequency of less than 99% although the percentage would be open to discussion.
Please comment

See responses to Question 3

Total number of responses to date: 12

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NHGRI
	The work of the HGNC is supported by National Human Genome Research Institute (NHGRI) grant P41 HG03345 and Wellcome Trust grant 081979/Z/07/Z.