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    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION
    11.
    发明申请
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 有权

    公开(公告)号：US20210139998A1

    公开(公告)日：2021-05-13

    申请号：US17152529

    申请日：2021-01-19

    Applicant: GUARDANT HEALTH, INC.

    Inventor： AmirAli TALASAZ

    IPC: C12Q1/6886 ,  G16B30/00 ,  C12Q1/6806 ,  C12N15/10 ,  C12Q1/6869 ,  C12Q1/6874

    Abstract: The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION
    12.
    发明申请
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 审中-公开

    公开(公告)号：US20200087736A1

    公开(公告)日：2020-03-19

    申请号：US16593633

    申请日：2019-10-04

    Applicant: GUARDANT HEALTH, INC.

    Inventor： AmirAli TALASAZ

    IPC: C12Q1/6886 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12N15/10 ,  G16B30/00 ,  C12Q1/6874

    Abstract: The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION
    17.
    发明公开
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 审中-公开

    公开(公告)号：US20240318234A1

    公开(公告)日：2024-09-26

    申请号：US18677090

    申请日：2024-05-29

    Applicant: GUARDANT HEALTH, INC.

    Inventor： AmirAli TALASAZ ,  Stefanie Ann Ward MORTIMER

    IPC: C12Q1/6827 ,  C12Q1/6806 ,  C12Q1/6869 ,  G16B30/00

    CPC classification number: C12Q1/6827 ,  C12Q1/6806 ,  G16B30/00 ,  C12Q1/6869

    Abstract: The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS
    20.
    发明公开
    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS 审中-公开

    公开(公告)号：US20240043922A1

    公开(公告)日：2024-02-08

    申请号：US18491071

    申请日：2023-10-20

    Applicant: GUARDANT HEALTH, INC.

    Inventor： AmirAli TALASAZ ,  Helmy ELTOUKHY ,  Stefanie Ann Ward MORTIMER

    IPC: C12Q1/6869 ,  C12Q1/6886

    CPC classification number: C12Q1/6869 ,  C12Q1/6886 ,  G16B15/00

    Abstract: Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected.

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