MULTIPLE TAGGING OF LONG DNA FRAGMENTS
    2.
    发明申请
    MULTIPLE TAGGING OF LONG DNA FRAGMENTS 审中-公开
    多个DNA片段的多标签

    公开(公告)号:US20160046985A1

    公开(公告)日:2016-02-18

    申请号:US14782307

    申请日:2014-03-17

    Abstract: The present invention provides methods and compositions for tagging long fragments of a target nucleic acid for sequencing and analyzing the resulting sequence information in order to reduce errors and perform haplotype phasing, for example.

    Abstract translation: 本发明提供了用于标记靶核酸的长片段的方法和组合物,用于测序和分析所得到的序列信息,以便例如减少错误并进行单倍型定相。

    PHASING AND LINKING PROCESSES TO IDENTIFY VARIATIONS IN A GENOME
    4.
    发明申请
    PHASING AND LINKING PROCESSES TO IDENTIFY VARIATIONS IN A GENOME 审中-公开
    相关和链接过程识别基因组中的变化

    公开(公告)号:US20150094961A1

    公开(公告)日:2015-04-02

    申请号:US14503872

    申请日:2014-10-01

    CPC classification number: G16B30/00 G16B20/00

    Abstract: Long fragment read techniques can be used to identify deletions and resolve base calls by utilizing shared labels (e.g., shared aliquots) of a read with any reads corresponding to heterozygous loci (hets) of a haplotype. For example, the linking of a locus to a haplotype of multiple hets can increase the reads available at the locus for determining a base call for a particular haplotype. For a hemizygous deletion, a region can be linked to one or more hets, and the labels for a particular haplotype can be used to identify which reads in the region correspond to which haplotype. In this manner, since the reads for a particular haplotype can be identified, a hemizygous deletion can be determined. Further, a phasing rate of pulses can be used to identify large deletions. A deletion can be identified with the phasing rate is sufficiently low, and other criteria can be used.

    Abstract translation: 可以使用长片段读取技术来识别缺失并通过利用与单倍型的杂合位点(hets)相对应的任何读取的共享标签(例如共享等分试样)来解析基本调用。 例如,将一个基因座与多个单倍型的单倍型的连接可以增加在该位点处可用的读数,以确定特定单体型的碱基调用。 对于半合子缺失,区域可以连接到一个或多个疱疹,并且特定单元型的标签可用于鉴定区域中哪个读取对应于哪个单倍型。 以这种方式,由于可以鉴定特定单体型的读数,所以可以确定半合子缺失。 此外,可以使用脉冲的相位速率来识别大的缺失。 可以通过相位速率来确定删除,并且可以使用其他标准。

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