Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet F-O, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux A-F, des Georges M, Béroud C, Claustres M
Laboratoire de Génétique Moléculaire, CHU de Montpellier, 34000 Montpellier, France.
Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1.
New technologies, which constantly become available for mutation detection and gene analysis, have contributed to an exponential rate of discovery of disease genes and variation in the human genome. The task of collecting and documenting this enormous amount of data in genetic databases represents a major challenge for the future of biological and medical science. The Locus Specific Databases (LSDBs) are so far the most efficient mutation databases. This review presents the main types of databases available for the analysis of mutations responsible for genetic disorders, as well as open perspectives for new therapeutic research or challenges for future medicine. Accurate and exhaustive collection of variations in human genomes will be crucial for research and personalized delivery of healthcare.
不断涌现的用于突变检测和基因分析的新技术，促使疾病基因和人类基因组变异的发现呈指数级增长。在遗传数据库中收集和记录这些海量数据的任务，对生物和医学科学的未来构成了重大挑战。目前，基因座特异性数据库（LSDBs）是最有效的突变数据库。本文综述了可用于分析导致遗传疾病的突变的主要数据库类型，以及新治疗研究的开放前景或未来医学面临的挑战。准确而详尽地收集人类基因组变异对于研究和个性化医疗服务至关重要。
