SYSTEMS AND METHODS FOR DETERMINING STRUCTURAL VARIATION AND PHASING USING VARIANT CALL DATA
    5.
    发明申请
    SYSTEMS AND METHODS FOR DETERMINING STRUCTURAL VARIATION AND PHASING USING VARIANT CALL DATA 审中-公开
    使用变量呼叫数据确定结构变化和相位的系统和方法

    公开(公告)号:US20160232291A1

    公开(公告)日:2016-08-11

    申请号:US15019928

    申请日:2016-02-09

    CPC classification number: G16B30/00 G16B20/00

    Abstract: Systems and methods for determining structural variation and phasing using variant call data obtained from nucleic acid of a biological sample are provided. Sequence reads are obtained, each comprising a portion corresponding to a subset of the test nucleic acid and a portion encoding a barcode independent of the sequencing data. Bin information is obtained. Each bin represents a different portion of the sample nucleic acid. Each bin corresponds to a set of sequence reads in a plurality of sets of sequence reads formed from the sequence reads such that each sequence read in a respective set of sequence reads corresponds to a subset of the nucleic acid represented by the bin corresponding to the respective set. Binomial tests identify bin pairs having more sequence reads with the same barcode in common than expected by chance. Probabilistic models determine structural variation likelihood from the sequence reads of these bin pairs.

    Abstract translation: 提供了使用从生物样品的核酸获得的变体调用数据来确定结构变化和定相的系统和方法。 获得序列读数,每个包含对应于测试核酸的子集的部分和编码独立于测序数据的条形码的部分。 获取Bin信息。 每个箱表示样品核酸的不同部分。 每个箱对应于从序列读取形成的多组序列读取中的一组序列读取,使得在相应的序列读取集合中读取的每个序列对应于由对应于相应的存储体的bin所代表的核酸的子集 组。 二项式测试识别具有更多序列读取的bin对,其中相同的条形码与预期的机会相同。 概率模型根据这些箱对的序列读数确定结构变异似然。

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