METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS

    公开(公告)号:US20240240247A1

    公开(公告)日:2024-07-18

    申请号:US18538986

    申请日:2023-12-13

    摘要: 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.

    Companion diagnostic biomarker for anti-HER2 therapy and use thereof

    公开(公告)号:US12037646B2

    公开(公告)日:2024-07-16

    申请号:US16778237

    申请日:2020-01-31

    IPC分类号: C12Q1/6886

    摘要: A function of cyclin-dependent kinase 12 (CDK12) as a biomarker for a human epidermal growth factor receptor 2 (HER2)-positive cancer and anti-HER2 therapy, and a use of the CDK12 are provided. The CDK12 may be used for companion diagnostics of a HER2-targeted therapeutic agent for a subject having HER2+ cancer as a prognostic factor and a predictive factor for response of the subject to the anti-HER2-targeted therapeutic agent in HER2+ cancer, or used to check the probability of expressing resistance to the HER2-targeted therapeutic agent. When the CDK12 is amplified or expressed at a level higher than a reference value, the CDK12 may be suppressed to overcome the resistance to the HER2 therapeutic agent and improve a therapeutic effect, thereby improving the therapeutic efficiency of HER2-positive cancer.

    METHODS OF DIAGNOSIS OF RESPIRATORY VIRAL INFECTIONS

    公开(公告)号:US20240218468A1

    公开(公告)日:2024-07-04

    申请号:US18557784

    申请日:2022-05-11

    申请人: Inflammatix, Inc.

    IPC分类号: C12Q1/70

    摘要: Systems, methods, compositions, apparatuses, and kits for determining the viral infection status of subjects using respiratory samples, and for determining effective triage strategies for such subjects, are provided herein. The disclosed methods and compositions involve biomarkers identified from the application of a machine learning workflow to viral training data from respiratory samples. The biomarkers allow the calculation of a score that can be used to determine the viral infection status of the subjects.