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基因变异数据库(LSDB)的管理:走向通用标准。

Curating gene variant databases (LSDBs): toward a universal standard.

机构信息

Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.

出版信息

Hum Mutat. 2012 Feb;33(2):291-7. doi: 10.1002/humu.21626. Epub 2011 Nov 3.

Abstract

Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants on a gene-by-gene basis. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists easy access to an up-to-date overview of all gene variants identified worldwide and whether they influence the function of the gene ("pathogenic or not"). While literature on gene variant databases is extensive, little has been published on the process of database curation itself. Based on our extensive experience as LSDB curators and our contributions to database curation courses, we discuss the subject of database curation. We describe the tasks involved, the steps to take, and the issues that might occur. Our overview is a first step toward establishing overall guidelines for database curation and ultimately covers one aspect of establishing quality-assured gene variant databases.

摘要

基因变异数据库或基因特异性数据库 (LSDB) 用于按基因收集和显示序列变异信息。它们最常用于基于 DNA 的诊断,为临床医生和科学家提供了一种便捷的方式,可随时了解全球所有已识别的基因变异及其是否影响基因功能(“致病性或非致病性”)的最新概况。虽然有关基因变异数据库的文献很多,但关于数据库管理本身的过程却很少有报道。基于我们作为 LSDB 管理者的丰富经验,以及我们对数据库管理课程的贡献,我们讨论了数据库管理这一主题。我们描述了所涉及的任务、步骤以及可能出现的问题。我们的概述是为数据库管理制定总体准则迈出的第一步,最终涵盖了建立经过质量保证的基因变异数据库的一个方面。

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