The Nomenclature of Human Genes

描述（由申请人提供）：生物医学研究人员需要易于记忆的、简洁的基因名称，以便以书面和口头形式有效地交流。这些名称必须在基因组中独一无二，跨越不同的学科，易于记忆，应该很少改变，最好是有意义的。重要的是，这些名称不同于数据库用来跟踪其数据的跟踪标识符；人类大脑无法简单地对NM_001010848和ENSG00000185737进行分类和记忆，而NRG3（神经调节蛋白3）则可以很容易地说出、理解和记忆。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理解和明确的关系，这样用户就可以看到这些直观的符号，并找到关于该对象的相关信息。HGNC（人类基因命名委员会）于1977年由人类基因定位协会成立，旨在为分配人类基因符号提供一个单一的全球权威机构。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可能显得平淡无奇。然而，如果没有这样一个协调的资源，可能会在文献和各种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有两个最重要的目标：a.为每个人类基因提供独特和标准化的命名法；b.确保这些信息可以免费获得、广泛传播和普遍使用。这包括三个关键组成部分：1。核苷酸和氨基酸序列的生物信息学分析；2. 管理在线资源，特别是可搜索的在线数据库，其中包括每个基因的记录，其中包含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；和3。持续的沟通，包括与研究人员就命名法进行咨询，与其他命名法组协调同源基因的命名，与其他数据库交换数据，通过电子方式和出版物以及参加会议和会议，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.