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    Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
    6.
    发明公开
    Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids 审中-公开
    一种用于通过确定两者的两种不同的核酸的相对和总量确定的生物学病症的存在的方法

    公开(公告)号：EP3018213A1

    公开(公告)日：2016-05-11

    申请号：EP14191764.1

    申请日：2014-11-04

    申请人： Genesupport SA

    发明人： Conrad, Bernard

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6886 ,  C12Q1/6879 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/18 ,  G06F19/22

    摘要： The present invention relates to a method for determining the presence of a biological condition associated with a nucleic acid species N1 in a test biological sample obtained from a patient, said biological sample comprising two nucleic acid species N1 and N2, wherein the method comprises:
    a) determining the total amount [N1 + N2] and comparing said total amount to at least one discrimination threshold T;
    b) determining the relative amount N1:N2 and comparing said relative amount to at least one discrimination threshold R specific for the method of step (a); and
    c) on the basis of the comparisons carried out in step (a) and (b), determining the presence of the biological condition.
    The method generally comprises extraction of the total nucleic acids from a sample; optionally enrichment of the species N1,possibly by size selection; attribution of sequenced nucleic acids larger than 50 bp to individual chromosomes; and comparison of sequence reads with references.

    摘要翻译： 本发明涉及一种用于确定采矿的方法与从患者获得的测试生物样品中核酸物质N1相关的生物条件的存在，所述生物样品包含两种核酸种类N1和N2，worin该方法包括：一个 ）确定性采矿总量[N1 + N2]和所述总量与至少一个鉴别阈值T; b）中确定的采矿的相对量N1：N2和所述相对量为步骤的方法与至少一个区分阈值R特定的（a）; 和c）在步骤中进行的比较的基础上的（a）和（b），确定性挖掘的生物条件的存在。 该方法基因集会包括从样品中总核酸提取; 物种N1，可能是由大小选择任选富集; 的测序核酸超过50个碱基对个体染色体较大归因; 和序列的比较参考读取。