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    CHARACTERIZING THE GENOME OF INDIVIDUAL CELLS BY LONG FRAGMENT READ SEQUENCING OF OLIGONUCLEOTIDE TAGGED DNA FRAGMENTS
    73.
    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
    74.
    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.

    INJECTION MOLDED MICROFLUIDIC/FLUIDIC CARTRIDGE INTEGRATED WITH SILICON-BASED SENSOR
    76.
    发明申请
    INJECTION MOLDED MICROFLUIDIC/FLUIDIC CARTRIDGE INTEGRATED WITH SILICON-BASED SENSOR 审中-公开

    公开(公告)号：US20190070606A1

    公开(公告)日：2019-03-07

    申请号：US16119450

    申请日：2018-08-31

    Applicant: Complete Genomics, Inc.

    Inventor： Chen Li ,  Cheng Frank Zhong ,  Yu Liu ,  Yiwen Ouyang

    IPC: B01L3/00

    Abstract: A microfluidic device includes a substrate, a sensor, and one or more lamination films. The top surface of the substrate can include first recessed grooves forming first open channels and the bottom surface of the plastic substrate can include a first recessed cavity and second recessed groves forming second open channels. A first lamination film can be adhered with the top surface of the plastic substrate to form first closed channels. A second lamination film can be adhered to the bottom surface of the plastic substrate to form second closed channels. The sensor can be on the bottom surface of the substrate such that it overlies the first recessed cavity to form a flow cell with the sensor top surface inward facing. A first closed channel can be fluidically connected with a second closed channel and a first or second closed channel can be fluidically connected with the flow cell.

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