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1. 发明申请

WO2015067796A1 GENETIC ANALYSIS METHOD 审中-公开
标题翻译：遗传分析方法
公开(公告)号：WO2015067796A1
公开(公告)日：2015-05-14
申请号：PCT/EP2014/074155
申请日：2014-11-10
申请人： CARTAGENIA N.V.
发明人： DEVOGELAERE, Benoit , VERRELST, Herman
IPC分类号： C12Q1/68
CPC分类号： G06F19/18 , C12Q1/6869 , C12Q1/6874 , G06F19/24 , C12Q2521/301 , C12Q2525/191 , C12Q2535/122 , C12Q2545/101
摘要： A method of target DNA genome analysis is provided. The method comprises the steps of : - obtaining non-overlapping segments of target DNA stretches with segment boundaries defined by the presence of particular restriction enzyme recognition sites, whereby the assembly of said non-overlapping segments compose a reduced representation library of said target DNA genome; - obtaining for said segments, raw metrics from a sequencing process applied on said reduced representation library; - clustering non-overlapping, nearby segments with similar raw metrics to provide master segments; - providing metrics describing the master segments, - making a final discrete DNA call based on the master segments and its metrics.
摘要翻译：提供了靶DNA基因组分析的方法。该方法包括以下步骤： - 获得具有由特定限制酶识别位点的存在限定的区段边界的靶DNA延伸的非重叠区段，由此所述非重叠区段的组装构成所述靶DNA基因组的缩小表示文库 ; - 对所述段获得应用于所述简化表示库的排序过程的原始度量; - 使用类似的原始度量来聚集不重叠的附近细分，以提供主分段; - 提供描述主节点的度量， - 根据主节点及其度量进行最终的离散DNA呼叫。

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