Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.
作者信息
Plazzer John-Paul, den Dunnen Johan T, Smith Timothy, Macrae Finlay, Cotton Richard G
机构信息
Curator, International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Royal Melbourne Hospital, Parkville, Vic., Australia;
出版信息
Clin Biochem Rev. 2012 Feb;33(1):21-4.
Abstract
摘要
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本文引用的文献
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Curating gene variant databases (LSDBs): toward a universal standard.基因变异数据库（LSDB）的管理：走向通用标准。
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The case for locus-specific databases.定位特定数据库的理由。
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LOVD v.2.0: the next generation in gene variant databases.LOVD v.2.0：基因变异数据库的新一代产品。
Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.
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WAVe: web analysis of the variome.WAVe：变异组的网络分析。
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Hum Mutat. 2010 Nov;31(11):1179-84. doi: 10.1002/humu.21339.
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