Method and system for determining a zero point for array-based comparative genomic hybridization data
    4.
    发明申请
    Method and system for determining a zero point for array-based comparative genomic hybridization data 审中-公开
    用于确定基于阵列的比较基因组杂交数据的零点的方法和系统

    公开(公告)号:US20070174008A1

    公开(公告)日:2007-07-26

    申请号:US11338515

    申请日:2006-01-24

    IPC分类号: G06F19/00

    CPC分类号: G16B25/00 G16B45/00

    摘要: Various embodiments of the present invention determine a zero point, or centralization constant ζ, for an array-based comparative genomic hybridization (“aCGH”) data set by identifying a zero-point value, or centralization constant ζ, that, when used in an aberration-calling analysis of the aCGH data, results in the fewest number of array-probe-complementary genomic sequences identified as having abnormal copy numbers with respect to a control genome, or, in other words, results in the greatest number of array-probe-complementary genomic sequences identified as having normal copy numbers. In one embodiment, interval-based analysis of an aCGH data set may be carried out using a range of putative zero-point values, and the zero-point value for which the maximum number of genomic sequences are determined to have normal copy numbers may then be selected.

    摘要翻译: 本发明的各种实施方案通过鉴定零点值或中心常数zeta来确定基于阵列的比较基因组杂交(“aCGH”)数据集的零点或中心常数zeta,当在 aCGH数据的像差调查分析导致被认为具有相对于对照基因组具有异常拷贝数的阵列 - 探针互补基因组序列数量最少,换句话说,导致阵列探针数量最多 鉴定为具有正常拷贝数的互补基因组序列。 在一个实施例中,可以使用推定的零点值的范围来执行aCGH数据集的基于时间的分析,并且可以将确定具有正常拷贝数的最大数目的基因组序列的零点值 被选中。

    Methods and systems for joint analysis of array CGH data and gene expression data
    9.
    发明申请
    Methods and systems for joint analysis of array CGH data and gene expression data 审中-公开
    数组CGH数据和基因表达数据联合分析的方法和系统

    公开(公告)号:US20050170378A1

    公开(公告)日:2005-08-04

    申请号:US10964207

    申请日:2004-10-12

    CPC分类号: G16B25/00 G16B40/00

    摘要: Methods, systems and computer readable media for identifying a high-scoring, significantly altered genomic-continuous submatrix, wherein each genomic-continuous submatrix contains a subset of a set of genes measured across a set of samples to generate a DNA copy number data matrix and a gene expression data matrix. The subset of the genes is a genomic-continuous set of genes, and each genomic-continuous submatrix contains a subset of the set of samples measured to generate the DNA copy number data matrix and the gene expression data matrix.

    摘要翻译: 用于识别高得分,显着改变的基因组连续子矩阵的方法,系统和计算机可读介质,其中每个基因组连续子矩阵包含跨越一组样本测量的一组基因的子集,以产生DNA拷贝数数据矩阵, 基因表达数据矩阵。 基因的子集是基因组连续的基因组,每个基因组连续子矩阵包含测量的一组样本的子集以产生DNA拷贝数数据矩阵和基因表达数据矩阵。

    GENOME ANALYSIS USING A NICKING ENDONUCLEASE
    10.
    发明申请
    GENOME ANALYSIS USING A NICKING ENDONUCLEASE 审中-公开
    使用内分泌酶的基因组分析

    公开(公告)号:US20100330556A1

    公开(公告)日:2010-12-30

    申请号:US12495199

    申请日:2009-06-30

    IPC分类号: C12Q1/68

    摘要: A method of genome analysis is provided. In certain embodiments, the method of comprises: a) contacting a genomic sample comprising a double-stranded DNA with a site-specific nicking endonuclease to provide a nicked double-stranded DNA comprising a plurality of nick sites, in which the nicking endonuclease nicks a site adjacent to a variable nucleotide; b) contacting the nicked double-stranded DNA with a polymerase in the presence of a nucleotide composition comprising a first labeled nucleotide comprising a first label, thereby producing a labeled double-stranded DNA that is not labeled at every nick site; c) stretching out the labeled double-stranded DNA to provide a stretched, labeled double-stranded DNA; and d) imaging the stretched, labeled double-stranded DNA to identify a labeling pattern on the stretched labeled double-stranded DNA.

    摘要翻译: 提供了一种基因组分析方法。 在某些实施方案中,所述方法包括:a)将包含双链DNA的基因组样品与位点特异性切口内切核酸酶接触以提供包含多个切口位点的切口双链DNA,其中所述切口内切核酸酶切除 邻近可变核苷酸的位点; b)在含有包含第一标记的第一标记核苷酸的核苷酸组合物存在的情况下使所述切口双链DNA与聚合酶接触,从而产生未在每个切口位点标记的标记的双链DNA; c)拉伸标记的双链DNA以提供拉伸的标记的双链DNA; 和d)对拉伸的标记的双链DNA进行成像,以鉴定拉伸标记的双链DNA上的标记图谱。