Systems and Methods for Detecting Structural Variants
    4.
    发明申请
    Systems and Methods for Detecting Structural Variants 有权
    检测结构变体的系统和方法

    公开(公告)号:US20150094212A1

    公开(公告)日:2015-04-02

    申请号:US14503461

    申请日:2014-10-01

    Abstract: Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.

    Abstract translation: 用于识别长缺失的系统和方法可以获得核酸样品的潜在区域内和周围的多个扩增子的测序信息。 排序信息可以包括可以映射到参考序列的多个读取。 使用诸如读数映射到扩增子的参考序列和相对丰度的信息的信息,可以鉴定结构变体,并且如果核酸样品对于结构变体是纯合的或杂合的,则可以进行确定。

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