Gene Updates
 |
 |
 |
 |
 |
 |
|
Copy Number Variant (CNV) Gene Updates |
|
||||||
| ||||||||
| Giving unique and meaningful names to every human gene | ||||||||
| NOVEMBER 2005 UPDATE: Due to the enthusiastic response we received to the Hot Topic (see below) we decided to focus on this issue at the ASHG05 conference in Salt Lake City. We presented a poster and organised a meeting to discuss the issues relating to the nomenclature of variable copy number genes. The meeting brought together some eminent scientists in segmental duplication/copy number variation and representatives from NCBI, Sanger, UCSC and OMIM as well as members of the HGVS and HGNC. Please view the meeting summary webpage to see the community responses to date and to join in the debate. JUNE 2006 UPDATE: HGNC and HGVS (Human Genome Variation Society) organised a satellite meeting at HGM2006 with a focus on Copy Number Variation (CNV). During the meeting it was agreed that a method of naming CNV genes was required and several suggestions were made for how this could be achieved. The points included in the meeting summary will shortly be refined and incorporated into our Guidelines. MAY 2007 UPDATE: The HGNC presented their hierarchical database structure in a talk at the HGVS and in a poster at HGM2007 in Montreal, Canada. This hierarchical database structure will be public once populated with >100 copy number variants. If you have a CNV gene submission please complete our online gene symbol request form, specifying the CNV status in the additional comments and information field. Variable copy number gene nomenclature The research community is increasingly becoming aware that genes previously believed to be single copy, can be present in variable copy numbers in different individuals (PMID:15286789, 15273396 and 15918152). The nomenclature of these 'complex' loci has previously been dealt with on a case-by-case basis; however, as more such genes are identified, the HGNC would like to determine if a standard approach would be of benefit to the scientific community.
As illustrated above there is currently no consensus for naming variable copy number genes and, indeed, it may not be feasible to apply a standard nomenclature system to all cases. We would greatly appreciate your opinion and thoughts regarding the potential problems of the current nomenclature systems, benefits and pitfalls of a standard nomenclature, and ideas for an ideal new nomenclature scheme for variable copy number genes. Please email hgnc@genenames.org with your view. |
NHGRI |
 |
 |