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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.
期刊论文(20)
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会议论文
DOI: 10.1093/nar/gkm881
发表时间: 2008-01
期刊: NUCLEIC ACIDS RESEARCH
影响因子: 14.9
作者: [Bruford, Elspeth A., Lush, Michael J., Wright, Mathew W., Sneddon, Tam P., Povey, Sue, Birney, Ewan]
通讯作者: Birney, Ewan
DOI: 10.1186/1741-7007-5-47
发表时间: 2007-10-26
期刊: BMC biology
影响因子: 5.4
作者: [Holland PW, Booth HA, Bruford EA]
通讯作者: Bruford EA
DOI: 10.1093/nar/gks1066
发表时间: 2013-01
期刊: Nucleic acids research
影响因子: 14.9
作者: [Gray KA, Daugherty LC, Gordon SM, Seal RL, Wright MW, Bruford EA]
通讯作者: Bruford EA
Vive la différence: naming structural variants in the human reference genome.
Vive la différence:命名人类参考基因组中的结构变异。
DOI: 10.1186/1479-7364-7-12
发表时间: 2013
期刊: Human genomics
影响因子: 4.5
作者: [Seal,RuthL, Wright,MathewW, Gray,KristianA, Bruford,ElspethA]
通讯作者: Bruford,ElspethA
14
    The medaka Kiyosu panel: dissecting GxE effects of environmental chemicals
    The medaka Kiyosu panel: dissecting GxE effects of environmental chemicals
    GENCODE: comprehensive reference genome annotation for human and mouse
    GENCODE: comprehensive reference genome annotation for human and mouse
    海外基金