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    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION
    4.
    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.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS
    5.
    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.

    CANCER EVOLUTION DETECTION AND DIAGNOSTIC
    6.
    发明申请
    CANCER EVOLUTION DETECTION AND DIAGNOSTIC 审中-公开

    公开(公告)号：US20190005194A1

    公开(公告)日：2019-01-03

    申请号：US16075105

    申请日：2017-02-02

    Applicant: GUARDANT HEALTH, INC.

    Inventor： HELMY ELTOUKHY ,  AmirAli TALASAZ

    IPC: G06F19/24 ,  G06F19/18

    Abstract: The present disclosure provides methods for determining a probability that after any of a number of therapeutic interventions, an initial state of a subject, such as somatic cell mutational status of a subject with cancer, will develop a subsequent state. Such probabilities can be used to inform a health care provider as to particular courses of treatment to maximize probability of a desired outcome for the subject.

    POPULATION BASED TREATMENT RECOMMENDER USING CELL FREE DNA
    7.
    发明申请
    POPULATION BASED TREATMENT RECOMMENDER USING CELL FREE DNA 审中-公开

    公开(公告)号：US20180300456A1

    公开(公告)日：2018-10-18

    申请号：US15766765

    申请日：2016-10-07

    Applicant: GUARDANT HEALTH, INC.

    Inventor： HELMY ELTOUKHY ,  AmirAli TALASAZ

    IPC: G06F19/28 ,  G06F19/24 ,  G16H20/00

    Abstract: Systems and methods are disclosed for generating a therapeutic response predict or detecting a disease, by: using a genetic analyzer to generate genetic information; receiving into computer memory a training dataset comprising, for each of a plurality of individuals having a disease, (1) genetic information from the individual generated at first time point and (2) treatment response of the individual to one or more therapeutic interventions determined at a second, later, time point; and implementing a machine learning algorithm using the dataset to generate at least one computer implemented classification algorithm, wherein the classification algorithm, based on genetic information from a subject, predicts therapeutic response of the subject to a therapeutic intervention.

    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION
    8.
    发明申请
    SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION 审中-公开

    公开(公告)号：US20180223374A1

    公开(公告)日：2018-08-09

    申请号：US15872831

    申请日：2018-01-16

    Applicant: Guardant Health, Inc.

    Inventor： AmirAli TALASAZ ,  HELMY ELTOUKHY

    IPC: C12Q1/6886 ,  C12Q1/6806 ,  G06F19/22 ,  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.

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