A survey of locus-specific database curation
A survey of locus-specific database curation
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DOI：
10.1136/jmg.2006.044081
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发表时间：
2007-04-01
影响因子：
4
通讯作者：
Horaitis, Ourania
中科院分区：
文献类型：
--
作者：
Cotton, Richard G. H.;Phillips, Kate;Horaitis, Ourania
人们普遍认为，基因变异的管理最好由那些基因及其变异的专家来执行。然而，获得这种变异的资金是困难的，即使最新的基因变异清单是必不可少的遗传保健和医学研究的最佳交付。本研究旨在收集基因特异性数据库（基因座特异性数据库）的信息，以了解其功能、资金和需求。个体进行多达69个基因的策展。策展人花在策展上的时间是非常可变的。这从每周0小时到每周花费超过4小时的5名策展人不等。所需资金每年从600美元到45，000美元不等。大多数数据库是由人类基因组消除-突变数据库倡议推动的，并使用其准则。许多数据库报告了未发表的突变，除了一个应答者之外，所有应答者都报告了文献中的错误。在此基础上，提出了改善变异信息，特别是引起单基因疾病的突变信息的管理的5点建议：1.每个基因的管理者，谁是专家，应该被确定或提名。每周至少2小时的治疗，每年每个基因2000美元，应予以认可。应鼓励使用指导方针和自定义软件，以便于轻松设置和管理。4.应记录网站每周的点击次数，以便说明该网站对赠款发放的重要性。在建立特定地点数据库时应遵循已公布的协议。
It is widely accepted that curation of variation in genes is best performed by experts in those genes and their variation. However, obtaining funding for such variation is difficult even though up-to-date lists of variations in genes are essential for optimum delivery of genetic healthcare and for medical research. This study was undertaken to gather information on gene-specific databases (locus-specific databases) in an effort to understand their functioning, funding and needs.A questionnaire was sent to 125 curators and we received 47 responses. Individuals performed curation of up to 69 genes. The time curators spent curating was extremely variable. This ranged from 0 h per week up to 5 curators spending over 4 h per week. The funding required ranged from US$600 to US$45000 per year. Most databases were stimulated by the Human Genome Organization-Mutation Database Initiative and used their guidelines. Many databases reported unpublished mutations, with all but one respondent reporting errors in the literature. Of the 13 who reported hit rates, 9 reported over 52 000 hits per year.On the basis of this, five recommendations were made to improve the curation of variation information, particularly that of mutations causing single-gene disorder:1. A curator for each gene, who is an expert in it, should be identified or nominated.2. Curation at a minimum of 2 h per week at US$2000 per gene per year should be encouraged.3. Guidelines and custom software use should be encouraged to facilitate easy setup and curation.4. Hits per week on the website should be recorded to allow the importance of the site to be illustrated for grant-giving purposes.5. Published protocols should be followed in the establishment of locus-specific databases.