Detecting apparent mutations in nucleic acid sequences
    3.
    发明申请
    Detecting apparent mutations in nucleic acid sequences 审中-公开
    检测核酸序列中的明显突变

    公开(公告)号:US20060286566A1

    公开(公告)日:2006-12-21

    申请号:US11347350

    申请日:2006-02-03

    CPC classification number: C12Q1/6827 G16B30/00

    Abstract: A target nucleic acid sequence information obtained from a biological sample can be compared against a collection of reference nucleic acid sequences. The target nucleic acid sequence is aligned or matched against the reference sequences, wherein some of the target sequences have one or more polymorphisms. Different collections of reference sequences are created and used depending on what one is trying to determine about the target. For example, reference sequences associated with a particular disease may be stored in one or more databases and subsequently compared with a target sequence to determine whether a patient from which the sample sequence was obtained has that disease.

    Abstract translation: 可以将从生物样品获得的靶核酸序列信息与参照核酸序列的集合进行比较。 靶核酸序列与参考序列比对或匹配,其中一些靶序列具有一个或多个多态性。 创建和使用不同的参考序列集合,具体取决于正在尝试确定目标的内容。 例如,与特定疾病相关的参考序列可以存储在一个或多个数据库中,并随后与靶序列进行比较,以确定获得样品序列的患者是否具有该疾病。

    METHODS FOR DETECTING FETAL NUCLEIC ACIDS AND DIAGNOSING FETAL ABNORMALITIES
    4.
    发明申请
    METHODS FOR DETECTING FETAL NUCLEIC ACIDS AND DIAGNOSING FETAL ABNORMALITIES 审中-公开
    用于检测天然核酸的方法和诊断宫颈异常

    公开(公告)号:US20130022977A1

    公开(公告)日:2013-01-24

    申请号:US13619039

    申请日:2012-09-14

    Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

    Abstract translation: 本发明一般涉及用于检测胎儿核酸的方法和用于诊断胎儿异常的方法。 在某些实施方案中,本发明提供了用于确定胎儿核酸是否存在于母体样品中的方法,包括获得怀疑包括胎儿核酸的母体样品,并对样品进行测序反应以确定至少部分 Y染色体,从而确定胎儿核酸存在于样品中。 在其它实施方案中,本发明提供用于定量或定性分析以检测母体样品中的胎儿核酸的方法,而不管检测Y染色体的能力,特别是对于包括来自雌性胎儿的正常核酸的样品的检测能力。

    METHODS FOR DETERMINING A GENE EXPRESSION PROFILE AND FOR DISEASE DIAGNOSIS
    9.
    发明申请
    METHODS FOR DETERMINING A GENE EXPRESSION PROFILE AND FOR DISEASE DIAGNOSIS 审中-公开
    用于确定基因表达谱和疾病诊断的方法

    公开(公告)号:US20130035252A1

    公开(公告)日:2013-02-07

    申请号:US13566167

    申请日:2012-08-03

    CPC classification number: C12Q1/6883 C12Q2600/158 G01N2800/385

    Abstract: The invention generally relates to methods for determining a gene expression profile and for disease diagnosis. In certain aspects, methods of the invention involve obtaining a sample including somatic cells, transforming the somatic cells into target cells, and determining an expression profile from the target cells.

    Abstract translation: 本发明一般涉及确定基因表达谱和疾病诊断的方法。 在某些方面,本发明的方法涉及获得包含体细胞的样品,将体细胞转化为靶细胞,以及从靶细胞确定表达谱。

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