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

    IPC分类号: C12Q1/6869 C12Q1/6886

    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.

    BARCODING SYSTEMS AND METHODS FOR GENE SEQUENCING AND OTHER APPLICATIONS

    公开(公告)号:US20240043893A1

    公开(公告)日:2024-02-08

    申请号:US18353058

    申请日:2023-07-14

    摘要: The present invention generally relates to microfluidics and labeled nucleic acids. For example, certain aspects are generally directed to systems and methods for labeling nucleic acids within microfluidic droplets or other compartments, for instance, arising from a cell. In one set of embodiments, particles may be prepared containing oligonucleotides that can be used to determine target nucleic acids, e.g., attached to the surface of the particles. The oligonucleotides may include “barcodes” or unique sequences that can be used to distinguish nucleic acids in a droplet from those in another droplet, for instance, even after the nucleic acids are pooled together or removed from the droplets. Certain embodiments of the invention are generally directed to systems and methods for attaching additional or arbitrary sequences to the nucleic acids within microfluidic droplets or other compartments, e.g., recognition sequences that can be used to selectively determine or amplify a desired sequence suspected of being present within a droplet. Such systems may be useful, for example, for selective amplification in various applications, such as high-throughput sequencing applications.

    Method for Determining Sensitivity to an Antineoplastic Agent

    公开(公告)号:US20240026458A1

    公开(公告)日:2024-01-25

    申请号:US18015901

    申请日:2021-07-15

    摘要: Present invention provides methods for determining sensitivity or resistance to treatment with an antineoplastic agent in a subject diagnosed with a neoplastic disease, the method comprising determining in a biological sample obtained from said subject the presence or absence of a genetic or epigenetic alteration leading to reduced or abolished expression or function of FAT1, or determining whether FAT1 expression or function is reduced or abolished in a biological sample obtained from said subject; wherein said antineoplastic agent is selected from the group consisting of an epidermal growth factor receptor (EGFR) inhibitor, a mitogen-activated protein kinase (MEK) inhibitor, a Ca2+/calmodulin-dependent protein kinase (CAMK) inhibitor, and a SRC kinase inhibitor. Present invention further also provides methods of treating a subject diagnosed with a neoplastic disease, comprising determining the sensitivity or resistance of said subject to treatment with an antineoplastic agent.