公开(公告)号：US20090029868A1

公开(公告)日：2009-01-29

申请号：US11981143

申请日：2007-10-30

Applicant: Yulei Wang ,  Catalin Barbacioru ,  Raymond R. Samaha ,  John A. Elefteriades

Inventor： Yulei Wang ,  Catalin Barbacioru ,  Raymond R. Samaha ,  John A. Elefteriades

IPC: C40B30/04 ,  C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/112 ,  C12Q2600/158 ,  C12Q2600/16 ,  G01N2800/329

Abstract: We hypothesized that gene expression patterns in peripheral blood cells may correlate with TAA disease status, and carried out a comprehensive gene expression survey on peripheral blood cells obtained from TAA patients and normal individuals. A distinct gene expression profile in peripheral blood cells can classify TAA patients from normal individuals. The genes provided by the present teachings define a set of diagnostic markers, thus providing a blood-based gene expression test to facilitate early detection of TAA disease. Methods of distinguishing ascending from descending TAA are also provided, as are methods of distinguishing familial from sporadic TAA.

Abstract translation: 我们假设外周血细胞中的基因表达模式可能与TAA疾病状态相关，并对从TAA患者和正常个体获得的外周血细胞进行综合基因表达调查。 外周血细胞中不同的基因表达谱可以分类来自正常个体的TAA患者。 本教导提供的基因定义了一组诊断标记，从而提供了一种基于血液的基因表达测试，以促进TAA疾病的早期检测。 还提供了区分上升TAA的方法，以及区分家族与散发性TAA的方法。

公开(公告)号：US20130006342A1

公开(公告)日：2013-01-03

申请号：US13611240

申请日：2012-09-12

Applicant: Yulei WANG ,  Catalin Barbacioru ,  Raymond R. Samaha ,  John A. Elefteriades

Inventor： Yulei WANG ,  Catalin Barbacioru ,  Raymond R. Samaha ,  John A. Elefteriades

IPC: C40B30/04 ,  A61F2/06 ,  C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/112 ,  C12Q2600/158 ,  C12Q2600/16 ,  G01N2800/329

Abstract: We hypothesized that gene expression patterns in peripheral blood cells may correlate with TAA disease status, and carried out a comprehensive gene expression survey on peripheral blood cells obtained from TAA patients and normal individuals. A distinct gene expression profile in peripheral blood cells can classify TAA patients from normal individuals. The genes provided by the present teachings define a set of diagnostic markers, thus providing a blood-based gene expression test to facilitate early detection of TAA disease. Methods of distinguishing ascending from descending TAA are also provided, as are methods of distinguishing familial from sporadic TAA.

Abstract translation: 我们假设外周血细胞中的基因表达模式可能与TAA疾病状态相关，并对从TAA患者和正常个体获得的外周血细胞进行综合基因表达调查。 外周血细胞中不同的基因表达谱可以分类来自正常个体的TAA患者。 本教导提供的基因定义了一组诊断标记，从而提供了一种基于血液的基因表达测试，以促进TAA疾病的早期检测。 还提供了区分上升TAA的方法，以及区分家族与散发性TAA的方法。

公开(公告)号：US20100228496A1

公开(公告)日：2010-09-09

申请号：US12720595

申请日：2010-03-09

Applicant: Harrison M. Leong ,  Catalin Barbacioru ,  Gordon A. Janaway

Inventor： Harrison M. Leong ,  Catalin Barbacioru ,  Gordon A. Janaway

IPC: G06F17/18 ,  C12Q1/68 ,  G06F19/00

CPC classification number: G16B30/00 ,  C12Q1/6827 ,  G06N7/005 ,  G16B20/00 ,  G16B40/00

Abstract: Methods for the determination of a copy number of a target genomic sequence; either a target gene or genomic sequence of interest, in a biological sample are described. Various methods utilize a model drawn from a probability density function (PDF) for the assignment of a copy number of a target genomic sequence in a biological sample. Additionally, the methods provide for the determination of a confidence value for a copy number assigned to a sample based on attributes of the sample data. Accordingly, the various methods for the determination of a copy number provide the end user with significant information for the evaluation of a copy number of a target genomic sequence; either a gene or genomic sequence of interest.

Abstract translation: 用于确定靶基因组序列拷贝数的方法; 描述了生物样品中的靶基因或目的基因组序列。 各种方法利用从概率密度函数（PDF）中提取的模型来分配生物样品中靶基因组序列的拷贝数。 另外，这些方法提供了基于样本数据的属性确定分配给样本的副本编号的置信度值。 因此，用于确定拷贝数的各种方法为终端用户提供了用于评价目标基因组序列拷贝数的重要信息; 是感兴趣的基因或基因组序列。