Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Galicia, Spain.
Hum Mutat. 2012 Sep;33(9):1311-4. doi: 10.1002/humu.22164.
The importance for research and clinical utility of mutation databases, as well as the issues and difficulties entailed in their construction, is discussed within the Human Variome Project. While general principles and standards can apply to most human diseases, some specific questions arise when dealing with the nature of genetic neurological disorders. So far, publically accessible mutation databases exist for only about half of the genes causing neurogenetic disorders; and a considerable work is clearly still needed to optimize their content. The current landscape, main challenges, some potential solutions, and future perspectives on genetic databases for disorders of the nervous system are reviewed in this special issue of Human Mutation on neurogenetics.
在人类变异组计划中,讨论了突变数据库的研究和临床应用的重要性,以及它们构建所涉及的问题和困难。虽然一般原则和标准适用于大多数人类疾病,但在处理遗传性神经疾病的性质时,会出现一些具体问题。到目前为止,只有大约一半导致神经遗传疾病的基因的公共可访问突变数据库;显然,仍需要大量工作来优化其内容。本特刊就神经系统疾病的遗传数据库的现状、主要挑战、一些潜在的解决方案和未来展望进行了综述。