METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20240425915A1

    公开(公告)日:2024-12-26

    申请号:US18813477

    申请日:2024-08-23

    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.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20220380842A1

    公开(公告)日:2022-12-01

    申请号:US17810103

    申请日:2022-06-30

    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.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20220145385A1

    公开(公告)日:2022-05-12

    申请号:US17563781

    申请日:2021-12-28

    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.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20210395814A1

    公开(公告)日:2021-12-23

    申请号:US17410903

    申请日:2021-08-24

    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.

    METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20240043922A1

    公开(公告)日:2024-02-08

    申请号:US18491071

    申请日:2023-10-20

    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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