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2. 发明申请

WO2003074734A2 METHODS FOR DETECTING GENOME-WIDE SEQUENCE VARIATIONS ASSOCIATED WITH A PHENOTYPE 审中-公开
标题翻译：用于检测与基因组相关的基因型序列变异的方法
公开(公告)号：WO2003074734A2
公开(公告)日：2003-09-12
申请号：PCT/GB2003/000941
申请日：2003-03-05
申请人： MANTEIA S.A. , LEE, Nicholas, John , MAYER, Pascal , LEVIEV, Ilia , OSTERAS, Magne , FARINELLI, Laurent
发明人： MAYER, Pascal , LEVIEV, Ilia , OSTERAS, Magne , FARINELLI, Laurent
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6809 , C12Q1/6876 , C12Q2521/301
摘要： The invention provides methods for determining genome-wide sequence variations associated with phenotype of a species in a hypothesis-free manner. In the methods of the invention, a set of restriction fragments for each of a sub-population of individuals having the phenotype are generated by digesting nucleic acids from the individual using one or more different restriction enzymes. A set of restriction sequence tags for the individual is then determined from the set of restriction fragments. The restriction sequence tags for the sub-population of organisms are compared and grouped into one or more groups, each of which comprising restriction sequence tags that comprise homologous sequences. The obtained one or more groups of restriction sequence tags identify the sequence variations associated with the phenotype. The methods of the invention can be used for, e.g., analysis of large numbers of sequence variants in many patient samples to identify subtle genetic risk factors.
摘要翻译：本发明提供了以无假设方式确定与物种表型相关的全基因组序列变异的方法。在本发明的方法中，通过使用一种或多种不同的限制酶消化来自个体的核酸，产生一组具有表型的个体亚群的限制性片段。然后从该组限制性片段确定针对个体的一组限制性序列标签。将生物体亚群的限制性序列标签进行比较并分组成一个或多个组，每组包含包含同源序列的限制性序列标签。获得的一组或多组限制性序列标签鉴定与表型相关的序列变异。本发明的方法可用于例如许多患者样品中大量序列变体的分析以鉴定微妙的遗传风险因子。

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