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    MULTIPLE TAGGING OF LONG DNA FRAGMENTS
    42.
    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

    Applicant: COMPLETE GENOMICS, INC.

    Inventor： Radoje Drmanac ,  Brock A. Peters ,  Andrei Alexeev

    IPC: C12Q1/68

    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。

    Methods and Compositions for Efficient Base Calling in Sequencing Reactions
    43.
    发明申请
    Methods and Compositions for Efficient Base Calling in Sequencing Reactions 有权
    在排序反应中有效的基本调用的方法和组合

    公开(公告)号：US20140378321A1

    公开(公告)日：2014-12-25

    申请号：US14468213

    申请日：2014-08-25

    Applicant: Complete Genomics, Inc.

    Inventor： Radoje Drmanac

    IPC: C12Q1/68

    CPC classification number: C12Q1/6874 ,  C12Q1/68 ,  C12Q1/686 ,  C12Q1/6869 ,  C12Q1/6876 ,  C12Q2565/102 ,  C12Q2565/1025 ,  C12Q2565/518

    Abstract: The present invention is directed to methods and compositions for acquiring nucleotide sequence information of target sequences. In particular, the present invention provides methods and compositions for improving the efficiency of sequencing reactions by using fewer labels to distinguish between nucleotides and by detecting nucleotides at multiple detection positions in a target sequence.

    Abstract translation: 本发明涉及获取靶序列的核苷酸序列信息的方法和组合物。 特别地，本发明提供了通过使用较少的标记来区分核苷酸并通过检测目标序列中的多个检测位置的核苷酸来提高测序反应的效率的方法和组合物。

    CHARACTERIZING THE GENOME OF INDIVIDUAL CELLS BY LONG FRAGMENT READ SEQUENCING OF OLIGONUCLEOTIDE TAGGED DNA FRAGMENTS
    46.
    发明申请
    CHARACTERIZING THE GENOME OF INDIVIDUAL CELLS BY LONG FRAGMENT READ SEQUENCING OF OLIGONUCLEOTIDE TAGGED DNA FRAGMENTS 有权

    公开(公告)号：US20220411866A1

    公开(公告)日：2022-12-29

    申请号：US17864916

    申请日：2022-07-14

    Applicant: Complete Genomics, Inc.

    Inventor： Radoje Drmanac

    IPC: C12Q1/6874 ,  C12Q1/682 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6837 ,  C07H21/04 ,  C07K1/04 ,  G01N15/14

    Abstract: This disclosure provides technology for ordering sequence information derived from one or more target polynucleotides. In one aspect, one or more tiers or levels of fragmentation and aliquoting are generated, after which sequence information is obtained from fragments in a final level or tier. Each fragment in such final tier is from a particular aliquot, which, in turn, is from a particular aliquot of a prior tier, and so on. For every fragment of an aliquot in the final tier, the aliquots from which it was derived at every prior tier is known, or can be discerned. Thus, identical sequences from overlapping fragments from different aliquots can be distinguished and grouped as being derived from the same or different fragments from prior tiers. When the fragments in the final tier are sequenced, overlapping sequence regions of fragments in different aliquots are used to register the fragments so that non-overlapping regions are ordered. In one aspect, this process is carried out in a hierarchical fashion until the one or more target polynucleotides are characterized, e.g. by their nucleic acid sequences, or by an ordering of sequence segments, or by an ordering of single nucleotide polymorphisms (SNPs), or the like.

    Phasing and linking processes to identify variations in a genome
    47.
    发明授权
    Phasing and linking processes to identify variations in a genome 有权

    公开(公告)号：US10468121B2

    公开(公告)日：2019-11-05

    申请号：US14503872

    申请日：2014-10-01

    Applicant: Complete Genomics, Inc.

    Inventor： Bahram Ghaffarzadeh Kermani ,  Radoje Drmanac ,  Brock A. Peters

    IPC: G16B30/00 ,  G16B20/00 ,  G06F19/10

    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.

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