The Nomenclature of Human Genes

描述(由申请人提供)：生物医学研究人员需要有记忆的、简明的基因名称，以便以书面和口头形式进行有效交流。这些名字在基因组中必须是唯一的，在不同的学科中都必须是唯一的，容易记住，应该很少改变，理想情况下是有意义的。重要的是，这些名字不同于数据库用来随着时间的推移跟踪其数据的跟踪标识符；人类的大脑根本不容易分类和记住NM_001010848和ENSG00000185737，而NRG3(NeuRegin3)很容易说出、理解和记住。在用户友好的命名法和数据库跟踪标识符之间必须有很好地理解和明确的关系，以便可以向用户呈现这些直观的符号并找到关于该对象的相关信息。HGNC(人类基因命名委员会)是由人类基因图谱社区于1977年成立的，目的是提供一个单一的全球权威机构来分配人类基因符号。与最近的一些大型项目相比，为所有人类基因提供独特的、用户友好的名称的目标似乎平淡无奇。然而，没有这样一个协调的资源可能会在文献和所有形式的交流中造成广泛的混乱，并将极大地阻碍未来的研究和我们对人类基因组的理解。HGNC有两个压倒一切的目标：a.为每个人类基因提供唯一和标准化的命名法；b.确保这些信息可自由获得、广泛传播和普遍使用。这涉及三个关键组成部分：1.核苷酸和氨基酸序列的生物信息学分析；2.网上资源的整理，特别是一个可搜索的网上数据库，其中包括每种基因的记录，其中载有基因名称和符号以及相关信息，如cdna序列、染色体位置、关键出版物和与其他数据库的链接；3.持续的交流，包括与研究人员就命名问题进行磋商，与其他命名组协调命名同源基因，与其他数据库交流数据，以及通过电子方式和通过出版物以及出席会议提高目标受众对资源的认识。

DESCRIPTION (provided by applicant): Biomedical researchers need memorable, concise names for genes in order to communicate effectively in written and oral form. These names must be both unique in the genome and across different disciplines, easy to remember, should rarely change and ideally be meaningful. Importantly such names are distinct from tracking identifiers used by databases to track their data over time; human minds simply cannot easily categorise and remember NM_001010848 and ENSG00000185737, whereas NRG3 (neuregulin 3) can be easily spoken, understood and remembered. There must be a well understood and explicit relationship between the user-friendly nomenclature and database tracking identifiers, such that a user can be presented with these intuitive symbols and find the relevant information about that object. The HGNC (Human Gene Nomenclature Committee) was founded in 1977 by the Human Gene Mapping community to provide a single worldwide authority to assign human gene symbols. Compared to some recent large scale projects, the goal to provide unique, user-friendly names for all human genes might seem prosaic. However, not having such a coordinated resource risks widespread confusion in both the literature and in all forms of communication, and would greatly hinder future research and our understanding of the human genome. The HGNC has two overriding goals: a. providing a unique and standardised nomenclature for every human gene, and b. ensuring that this information is freely available, widely disseminated and universally used. This involves three key components: 1. the bioinformatic analysis of nucleotide and amino-acid sequences; 2. the curation of online resources, in particular a searchable online database, comprising records for each gene containing the gene name and symbol and relevant information such as the cDNA sequence, chromosomal location, key publications and links to other databases; and 3. constant communication, including consulting with researchers on nomenclature, coordinated naming of orthologous genes with other nomenclature groups, exchanging data with other databases, and raising awareness of the resource with the target audience, both electronically and through publications and attendance at conferences and meetings.