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    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION
    41.
    发明申请
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 审中-公开

    公开(公告)号：US20200248270A1

    公开(公告)日：2020-08-06

    申请号：US16709437

    申请日：2019-12-10

    Applicant: GUARDANT HEALTH, INC.

    Inventor： AmirAli TALASAZ

    IPC: C12Q1/6886 ,  G16B30/00 ,  C12Q1/6869 ,  C12N15/10 ,  C12Q1/6806 ,  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
    42.
    发明申请
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 审中-公开

    公开(公告)号：US20190316185A1

    公开(公告)日：2019-10-17

    申请号：US16389680

    申请日：2019-04-19

    Applicant: GUARDANT HEALTH, INC.

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

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

    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
    44.
    发明申请
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 审中-公开

    公开(公告)号：US20190177802A1

    公开(公告)日：2019-06-13

    申请号：US16277712

    申请日：2019-02-15

    Applicant: GUARDANT HEALTH, INC.

    Inventor： AmirAli TALASAZ

    IPC: C12Q1/6886 ,  G16B30/00 ,  C12Q1/6806 ,  C12Q1/6874 ,  C12N15/10 ,  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
    45.
    发明申请
    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS 审中-公开

    公开(公告)号：US20180230530A1

    公开(公告)日：2018-08-16

    申请号：US15892178

    申请日：2018-02-08

    Applicant: Guardant Health, Inc.

    Inventor： HELMY ELTOUKHY ,  AmirAli TALASAZ

    IPC: C12Q1/6869 ,  C12Q1/6886 ,  G06F19/16

    CPC classification number: C12Q1/6869 ,  C12Q1/6886 ,  C12Q2535/122 ,  C12Q2600/158 ,  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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