Cotton R G H, Auerbach A D, Beckmann J S, Blumenfeld O O, Brookes A J, Brown A F, Carrera P, Cox D W, Gottlieb B, Greenblatt M S, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert D W, Povey S, Rossetti S, Scriver C R, Summar M, Tolan D R, Verma I C, Vihinen M, den Dunnen J T
Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Australia.
Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650.
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.
对影响人类健康的基因中的突变进行专业整理和完整收集，对于恰当的基因医疗保健和研究至关重要。专业整理由基因特异性突变数据库或位点特异性数据库（LSDBs）的管理员进行。虽然有700多个这样的数据库，但它们在内容、完整性、可用于整理的时间以及管理员的专业知识方面存在差异。关于整理和LSDBs的讨论、著述以及相关协议已经有十多年了，但对于这些实体的理想形式却没有正式的建议。这项工作启动了关于这个主题的讨论，以协助人类遗传学领域未来的工作。欢迎进一步讨论。
