The Nomenclature of Human Genes

描述（由申请人提供）：生物医学研究人员需要令人难忘的，简洁的基因名称，以便以书面和口头形式进行有效沟通。这些名字必须在基因组中和不同学科中都是独特的，容易记住，很少改变，理想情况下是有意义的。重要的是，这些名称与数据库用于随时间跟踪其数据的跟踪标识符不同;人类大脑根本无法轻松分类和记住NM_001010848和ENSG 00000185737，而NRG 3（神经调节蛋白3）可以轻松说出，理解和记住。在用户友好的术语和数据库跟踪标识符之间必须有一个很好理解和明确的关系，以便用户可以看到这些直观的符号，并找到有关该对象的相关信息。HGNC（人类基因命名委员会）成立于1977年，由人类基因图谱社区提供一个单一的全球权威分配人类基因符号。与最近的一些大规模项目相比，为所有人类基因提供独特的、用户友好的名称的目标似乎是可行的。然而，如果没有这样一个协调的资源，就有可能在文献和各种形式的交流中产生广泛的混乱，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有两个首要目标：a.为每个人类基因提供独特的和标准化的命名法，和B.确保这些信息免费提供、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.在线资源的管理，特别是可搜索的在线数据库，包括含有基因名称和符号的每个基因的记录以及相关信息，例如cDNA序列、染色体位置、关键出版物和与其他数据库的链接;以及3.不断沟通，包括就命名问题与研究人员协商，与其他命名小组协调直向同源基因的命名，与其他数据库交换数据，并通过电子方式和出版物以及出席各种会议，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.