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中文摘要
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描述(由申请人提供):生物医学研究人员需要令人难忘的,简洁和独特的基因标识符,以进行有效的书面和口头交流。对于人类基因,这些标识符可以以许多形式出现在许多不同的数据库中,例如Ensembi ENSG 00000087053、Vega OTTHUMG 00000153837、Genz Gene GenelD:8898、UCSC uc001pfu.2、GeneCards GC 11 M095566、H-lnvDB H1 X 0010045、OMIM *603557,但是最用户友好的唯一标识符无疑是HGNC基因符号,在该实例中是MTMR 2。基因符号更容易识别,记忆和发音,因此被用作上述所有数据库中的主要描述符。这些符号使整个生物医学科学和超越沟通,协作和理解。HUGO基因命名委员会(HGNC)是唯一的全球权威机构,为人类基因指定标准化命名法,并在www.genenames.org上维护了一个可搜索的公共数据库,其中包含32,000多个命名的人类基因。和由基因组参考联盟(GRC)注释的区域中的拷贝数变异基因。另一个关键活动将是重新分配的基因与无信息标识符功能为基础的名称,因为这一信息得到阐明和出版。HGNC还将继续在协调人类基因组中剩余未解决基因结构的注释方面发挥关键作用。2009年,来自脊椎动物基因组学界的代表在HGNC组织的一次研讨会上会面,并同意所有脊椎动物物种的基因命名都应以人类基因名称为基础。基于他们多年的经验,HGNC将与遗传学专家、复杂基因家族的专家顾问和从事特定物种工作的社区合作,建立一个命名其他脊椎动物基因的资源。该资源最初将使用细胞色素P450和嗅觉受体基因超家族的专家策划数据进行填充。
英文摘要
DESCRIPTION (provided by applicant): Biomedical researchers need memorable, concise and unique identifiers for genes for effective written and oral communication. For human genes these identifiers can come in many forms in many different databases, e.g. EnsembI ENSG00000087053, Vega OTTHUMG00000153837, Entrez Gene GenelD:8898, UCSC uc001pfu.2, GeneCards GC11M095566, H-lnvDB H1X0010045, OMIM *603557, but the most user friendly unique identifier is undoubtedly the HGNC gene symbol, which in this example is MTMR2. Gene symbols are more easily recognized, remembered and pronounced, and hence are used as the primary descriptors in all of the above databases. These symbols enable communication, collaboration and understanding across the biomedical sciences and beyond. The HUGO Gene Nomenclature Committee (HGNC) is the sole worldwide authority assigning standardized nomenclature to human genes, and maintains a searchable public database of over 32,000 named human genes at www.genenames.org. This funding will allow for the continuance of the vital work of the HGNC, in particular naming newly identified human protein-coding and RNA genes, pseudogenes, and copy number variant genes in regions annotated by the Genome Reference Consortium (GRC). A further key activity will be the reassignment of genes with uninformative identifiers to function-based names as this information is elucidated and published. The HGNC will also continue to play a pivotal role in the coordination of annotation of the remaining unresolved gene structures in the human genome. In 2009 representatives from the vertebrate genomics community met at a workshop organized by the HGNC and agreed that gene naming across all vertebrate species should be based on human gene names. Building on their years of experience the HGNC will establish a resource for naming genes in other vertebrates, in collaboration with phylogenetics experts, specialist advisors for complex gene families, and communities working on specific species. This resource will be initially populated with expert-curated data for the cytochrome P450 and olfactory receptor gene superfamilies.
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