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    COMPOSITIONS AND METHODS FOR DETECTING RARE SEQUENCE VARIANTS
    92.
    发明申请
    COMPOSITIONS AND METHODS FOR DETECTING RARE SEQUENCE VARIANTS 审中-公开
    检测稀有序列变异的组合物和方法

    公开(公告)号：WO2018035170A1

    公开(公告)日：2018-02-22

    申请号：PCT/US2017/047029

    申请日：2017-08-15

    Applicant: ACCURAGEN HOLDINGS LIMITED ,  SUN, Zhaohui

    Inventor： SUN, Zhaohui ,  WENG, Li ,  LIN, Shengrong

    IPC: C12Q1/68 ,  C40B40/06 ,  C40B50/06 ,  C40B30/00

    Abstract: In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, or two different sheared polynucleotides as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods.

    Abstract translation: 在一些方面，本公开内容提供了用于鉴定核酸样品中的序列变体的方法。 在一些实施方案中，方法包括鉴定测序读数和参考序列之间的序列差异，并且调用至少两种不同的环状多核苷酸（例如具有不同的接合点的两种环状多核苷酸）或两种不同的剪切多核苷酸中发生的序列差异 变种。 在一些方面，本公开提供了可用于所述方法的组合物和系统。

    BLADDER CANCER DETECTION USING MICROSATELLITE ANALYSIS IN PAIRED BUCCAL SWAB AND URINE SAMPLES
    94.
    发明申请
    BLADDER CANCER DETECTION USING MICROSATELLITE ANALYSIS IN PAIRED BUCCAL SWAB AND URINE SAMPLES 审中-公开
    成对膀胱拭子和尿液样本中微小颗粒分析的膀胱癌检测

    公开(公告)号：WO2017099893A1

    公开(公告)日：2017-06-15

    申请号：PCT/US2016/058229

    申请日：2016-10-21

    Applicant: JS YOON MEMORIAL CANCER RESEARCH INSTITUTE, LLC

    Inventor： MOON, Chulso

    IPC: C40B30/00 ,  C12Q1/68

    CPC classification number: C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/16

    Abstract: Methods are described for the efficient and accurate detection of bladder cancer. In particular, the method utilizes microsatellite analysis of bladder cancer markers to determine the presence of loss of heterozygosity or microsatellite instability using matched buccal swab and urine samples from a patient. In some cancer marker panels, detected loss of heterozygosity or microsatellite instability in two markers can be indicative of bladder cancer.

    Abstract translation: 描述了用于高效和准确检测膀胱癌的方法。 具体而言，该方法利用膀胱癌标志物的微卫星分析以使用来自患者的匹配颊拭子和尿样品确定杂合性丢失或微卫星不稳定性的存在。 在一些癌症标志物组中，检测到两个标志物中杂合性或微卫星不稳定性的丢失可以指示膀胱癌。

    METHODS FOR ASSESSING THE QUALITY OF GENE EXPRESSION LIBRARIES
    95.
    发明申请
    METHODS FOR ASSESSING THE QUALITY OF GENE EXPRESSION LIBRARIES 审中-公开
    评估基因表达文库质量的方法

    公开(公告)号：WO2017070498A1

    公开(公告)日：2017-04-27

    申请号：PCT/US2016/058165

    申请日：2016-10-21

    Applicant: SMPL BIO, LLC

    Inventor： NELSON, Craig, E.

    IPC: C12Q1/68 ,  C40B30/00 ,  C40B30/04

    CPC classification number: C12Q1/6809 ,  G01N33/6845 ,  C12Q2535/122 ,  C12Q2545/101

    Abstract: The invention features methods for assessing the quality of gene expression libraries and methods for identifying gene expression libraries meeting a quality threshold. The methods generally involve surveying a set of gene expression data (e.g., gene expression data corresponding to one or more gene expression libraries) for the presence and/or expression level of a plurality of predetermined markers. In some instances, the predetermined markers correspond to a set of coordinately regulated genes, such as ribosomal protein genes.

    Abstract translation: 本发明描述了评估基因表达文库质量的方法和鉴定满足质量阈值的基因表达文库的方法。 该方法通常包括检测一组基因表达数据（例如，对应于一个或多个基因表达文库的基因表达数据）以确定多个预定标记的存在和/或表达水平。 在一些情况下，预定标记对应于一组协调调节的基因，例如核糖体蛋白基因。

    IMMUNE REPERTOIRE PROFILING
    98.
    发明申请
    IMMUNE REPERTOIRE PROFILING 审中-公开
    免责声明

    公开(公告)号：WO2014043813A1

    公开(公告)日：2014-03-27

    申请号：PCT/CA2013/050719

    申请日：2013-09-19

    Applicant: BRITISH COLUMBIA CANCER AGENCY BRANCH

    Inventor： HOLT, Robert

    IPC: C12Q1/68 ,  C12N15/10 ,  C12P19/34 ,  C07K14/725 ,  C07K14/05 ,  C40B30/00

    CPC classification number: C12Q1/6881 ,  C07K14/70503 ,  C07K14/7051 ,  C12N2740/14022 ,  C12P19/34 ,  C12Q2600/156

    Abstract: A method for determining nucleotide sequences of a first polynucleotide and a second polynucleotide. The method includes: transcribing the first polynucleotide in the presence of a first template oligonucleotide to generate a first extended polynucleotide and transcribing the second polynucleotide in the presence of a second template oligonucleotide to generate a second extended polynucleotide, wherein the first template oligonucleotide is annealable to the second template oligonucleotide; annealing the first and second extended polynucleotides through the complementary sequences of the first and second template oligonucleotides; performing polymerase chain reaction (PCR) to generate a linked polynucleotide having a sequence comprising the sequences of the first and the second polynucleotides; and decoding the sequence of the linked polynucleotide.

    Abstract translation: 用于测定第一多核苷酸和第二多核苷酸的核苷酸序列的方法。 该方法包括：在第一模板寡核苷酸存在下转录第​​一多核苷酸以产生第一延伸多核苷酸，并在第二模板寡核苷酸存在下转录第​​二多核苷酸以产生第二延伸多核苷酸，其中第一模板寡核苷酸可退火至 第二模板寡核苷酸; 通过第一和第二模板寡核苷酸的互补序列退火第一和第二延伸多核苷酸; 进行聚合酶链反应（PCR）以产生具有包含第一和第二多核苷酸序列的序列的连接的多核苷酸; 并解码连接的多核苷酸的序列。

    OCAB-BASED TOOLS FOR SCREENING OF THERAPEUTIC AGENTS, TREATING AND DIAGNOSING HEART DISEASE ASSOCIATED WITH CARDIAC REMODELING
    100.
    发明申请
    OCAB-BASED TOOLS FOR SCREENING OF THERAPEUTIC AGENTS, TREATING AND DIAGNOSING HEART DISEASE ASSOCIATED WITH CARDIAC REMODELING 审中-公开
    用于筛选治疗药物的基于OCAB的工具，与心脏重塑相关的治疗和诊断心脏疾病

    公开(公告)号：WO2013037066A1

    公开(公告)日：2013-03-21

    申请号：PCT/CA2012/050638

    申请日：2012-09-14

    Applicant: UNIVERSITÉ LAVAL ,  PICARD, Frédéric ,  CARTER, Sophie ,  COUET, Jacques

    Inventor： PICARD, Frédéric ,  CARTER, Sophie ,  COUET, Jacques

    IPC: A61K38/17 ,  A61P9/00 ,  C12Q1/00 ,  C12Q1/68 ,  C40B30/00 ,  G01N33/15 ,  G01N33/48 ,  G01N33/53 ,  G01N33/68 ,  G06F19/00

    CPC classification number: G01N33/6893 ,  G01N2500/04 ,  G01N2800/32 ,  G01N2800/50 ,  G01N2800/52 ,  Y02A90/24 ,  Y02A90/26

    Abstract: It is shown herein that the expression of the OcaB protein is modulated, in cardiomyocytes, during cardiac remodeling (e.g., heart mypertrophy and/or fibrosis) and aging. The present application thus provides methods of characterizing an individual susceptibility to develop a heart disease associated with cardiac remodeling, methods of diagnosing a heart disease associated with cardiac remodeling in an individual, methods of characterizing the effectiveness of an agent in the treatment, prevention or alleviation of symptoms of heart disease associated with cardiac remodeling in an individual, screening methods to identify agents useful in the treatment, prevention or alleviation of symptoms of heart disease associated with cardiac remodeling based on the assessment of a parameter of an OcaB-based reagent.

    Abstract translation: 这里显示OcaB蛋白的表达在心脏重塑（例如，心脏肌营养和/或纤维化）和衰老期间在心肌细胞中被调节。 因此，本申请提供了表征个体易感性以发展与心脏重建相关的心脏病的方法，诊断与个体心脏重塑相关的心脏病的方法，表征药物在治疗，预防或减轻中的有效性的方法 与个体心脏重塑相关的心脏病症状的筛选方法，用于鉴定用于治疗，预防或减轻与心脏重构相关的心脏病症状的药物的筛选方法，其基于对基于OcaB的试剂的参数的评估。

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