Plazzer John-Paul, Macrae Finlay
Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, RMH, Grattan Street, Parkville, VIC, 3050, Australia,
Methods Mol Biol. 2014;1168:263-73. doi: 10.1007/978-1-4939-0847-9_15.
In this chapter we aim to provide an overview of DNA variant databases, commonly known as Locus-Specific Databases (LSDBs), or Gene-Disease Specific Databases (GDSDBs), but the term variant database will be used for simplicity. We restrict this overview to germ-line variants, particularly as related to Mendelian diseases, which are diseases caused by a variant in a single gene. Common difficulties associated with variant databases and some proposed solutions are reviewed. Finally, systems where technical solutions have been implemented are discussed. This work will be useful for anyone wishing to establish their own variant database, or to learn about the global picture of variant databases, and the technical challenges to be overcome.
在本章中，我们旨在概述DNA变异数据库，通常称为位点特异性数据库（LSDBs）或基因疾病特异性数据库（GDSDBs），但为简便起见将使用变异数据库这一术语。我们将此概述限定于种系变异，特别是与孟德尔疾病相关的变异，孟德尔疾病是由单个基因中的变异引起的疾病。本文回顾了与变异数据库相关的常见困难及一些提出的解决方案。最后，讨论了已实施技术解决方案的系统。这项工作对于任何希望建立自己的变异数据库，或了解变异数据库的全局情况以及需要克服的技术挑战的人都将有所帮助。
