METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20240052419A1

    公开(公告)日:2024-02-15

    申请号:US17818944

    申请日:2022-08-10

    CPC classification number: C12Q1/6886 C12Q1/6874

    Abstract: This disclosure provides, among other things, methods for generating and applying therapeutic interventions. The methods involve, for example, (a) sequencing polynucleotides from cancer cells from a subject; (b) identifying and quantifying somatic mutations in the polynucleotides; (c) developing a profile of tumor heterogeneity in the subject indicating the presence and relative quantity of a plurality of the somatic mutations in the polynucleotides, wherein different relative quantities indicates tumor heterogeneity; and (d) determining a therapeutic intervention for a cancer exhibiting the tumor heterogeneity, wherein the therapeutic intervention is effective against a cancer having the profile of tumor heterogeneity determined.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20230272468A1

    公开(公告)日:2023-08-31

    申请号:US18316864

    申请日:2023-05-12

    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.

    DETERMINING TUMOR FRACTION FOR A SAMPLE BASED ON METHYL BINDING DOMAIN CALIBRATION DATA

    公开(公告)号:US20210407623A1

    公开(公告)日:2021-12-30

    申请号:US17219338

    申请日:2021-03-31

    Abstract: The application is directed to systems and processes to determine an estimate for tumor fraction of a sample. In various examples, amounts of methylation of nucleic acids can be determined based on a strength of binding by the nucleic acids to methyl binding domain (MBD). The nucleic acids can be partitioned according to the strength of binding to MBD. Additionally, a number of cytosine-guanine regions for the nucleic acids can be determined. Amounts of methylation of classification regions of the nucleic acids can be determined based on the partition information associated with the nucleic acids and the number of cytosine-guanine regions of the nucleic acids. The classification regions can have differing amounts of methylation in tumor cells and non-tumor cells. The estimate for tumor fraction of the sample can be determined according to the amounts of methylation of the classification regions.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20210164037A1

    公开(公告)日:2021-06-03

    申请号:US17167974

    申请日:2021-02-04

    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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