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    SYSTEMS AND METHODS FOR HIGH-THROUGHPUT IMAGE-BASED SCREENING
    1.
    发明公开
    SYSTEMS AND METHODS FOR HIGH-THROUGHPUT IMAGE-BASED SCREENING 审中-公开

    公开(公告)号：US20240175081A1

    公开(公告)日：2024-05-30

    申请号：US18461672

    申请日：2023-09-06

    Applicant: President and Fellows of Harvard College

    Inventor： Xiaowei Zhuang ,  George Alexander Emanuel ,  Jeffrey R. Moffitt

    IPC: C12Q1/6841 ,  C40B30/04 ,  C40B70/00

    CPC classification number: C12Q1/6841 ,  C40B30/04 ,  C40B70/00 ,  C12Q2525/161 ,  C12Q2563/179 ,  C12Q2565/514

    Abstract: The present invention generally relates to imaging cells, for example, to determine phenotypes and/or genotypes in populations of cells. In some aspects, cells may be analyzed, e.g., imaged, to determine their phenotype, and their genotypes may be determined by exposing the cells to nucleic acid probes, e.g., as in smFISH. MERFISH, FISH, in situ hybridization, or other suitable techniques. In some cases, the cells may be exposed to a nucleic acid comprising an identification portion, which may be used to distinguish the cells from each other. In some embodiments, the cells may be exposed to a nucleic acid comprising an expression portion, e.g. a gene, or coding region for a non-translated RNA, etc., that when expressed, produces a protein, RNA, DNA, or the like that may alter the phenotype of the cell or the variable nucleic acid sequence can consist of promoters, gene regulatory elements, transcription factor binding sites, Cas9 guide RNA coding regions, etc. that otherwise alter the phenotype of the cell. In some embodiments, the modifications that contain either the identification portion, the expression portion, or both may be introduced into the genome of a host organism or as exogenous materials, e.g. plasmids. Such changes may involve the addition of synthetic materials, such as synthetic nucleic acids, or modifications, e.g. deletions or mutations, of the genomic material of the host organism. Other aspects are generally directed to compositions or devices for use in such methods, kits for use in such methods, or the like.

    POLYMORPHISM DETECTION WITH INCREASED ACCURACY
    7.
    发明公开
    POLYMORPHISM DETECTION WITH INCREASED ACCURACY 审中-公开

    公开(公告)号：US20230416806A1

    公开(公告)日：2023-12-28

    申请号：US17955426

    申请日：2022-09-28

    Applicant: Apton Biosystems, Inc.

    Inventor： Bryan P. STAKER ,  Niandong LIU ,  Manohar R. FURTADO ,  Rixun FANG

    IPC: C12Q1/6827 ,  C12Q1/6837

    CPC classification number: C12Q1/6827 ,  C12Q1/6837 ,  C12Q2533/107 ,  C12Q2537/155 ,  C12Q2565/514 ,  C12Q2565/518

    Abstract: The invention relates to methods and compositions for the detection and quantification of nucleotide sequence variants, such as genetic polymorphisms, with decreased error and increased sensitivity, including single molecule detection. Detection of genetic polymorphisms, including single nucleotide polymorphisms (SNPs), is highly useful for the study of physiology, disease, phylogeny and forensics. Current methods for the detection and identification of nucleic acid sequence variants, such as genetic polymorphisms, lack the sensitivity to accurately detect low incidence mutations, sequence variants or alleles. Detection techniques for highly multiplexed single molecule identification and quantification of analytes using optical systems are disclosed. Analytes include, but are not limited to, nucleic acid, such as DNA and RNA molecules, with and without modifications. Techniques described herein include use of specific and non-specific probes complementary to nucleic acids of interest for detailed characterization of nucleotide sequence variants and highly multiplexed single molecule identification and quantification.

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