INTEGRATED METHOD AND SYSTEM FOR IDENTIFYING FUNCTIONAL PATIENT-SPECIFIC SOMATIC ABERATIONS USING MULTI-OMIC CANCER PROFILES

    公开(公告)号:US20180247010A1

    公开(公告)日:2018-08-30

    申请号:US15755878

    申请日:2016-08-26

    CPC classification number: G16B5/00 G06F17/18 G16B20/00

    Abstract: A system and method for determining the functional impact of somatic mutations and genomic aberrations on downstream cellular processes by integrating multi-omics measurements in cancer samples with community-curated biological pathways are disclosed. The method comprises the steps of extracting biological pathway information from well-curated biological pathway sources, using the pathway information to generate an upstream regulatory parent sub-network tree for each gene of interest, integrating measurement-based omic data for both cancer and normal samples to determine a nonlinear function for each gene expression level based on the gene's epigenetic information and regulatory network status, using the nonlinear function to predict gene expression levels and compare activation and consistency scores with inputted patient-specific gene expression data, and using the patient-specific gene expression predictions to identify significant deviations and inconsistencies in gene expression levels from expected levels in individual patient samples to identify potential biomarkers in providing predictive information in relation to cancer and cancer treatment.

    NOISE MODEL TO DETECT COPY NUMBER ALTERATIONS
    7.
    发明申请
    NOISE MODEL TO DETECT COPY NUMBER ALTERATIONS 审中-公开
    噪声模型检测复制编号

    公开(公告)号:US20160132637A1

    公开(公告)日:2016-05-12

    申请号:US14939363

    申请日:2015-11-12

    CPC classification number: G16B30/00 G16B20/00 G16B40/00

    Abstract: This disclosure relates to systems and methods that employ a noise model generated from control samples to detect copy number alterations (CNA) in one or more test samples. The noise model can be generated to represent an indication of noise associated with chromosomes of control biological samples obtained via a common protocol. The indication can be determined by comparing chromosomes of the control biological samples. The noise model can be used to detect CNAs within the test sample by analyzing variability thereof with respect to the noise model.

    Abstract translation: 本公开涉及使用由控制样本产生的噪声模型来检测一个或多个测试样本中的拷贝数变更(CNA)的系统和方法。 可以产生噪声模型以表示通过通用协议获得的对照生物样品的染色体相关噪声的指示。 可以通过比较对照生物样品的染色体来确定适应症。 噪声模型可用于通过分析与噪声模型相关的变异性来检测测试样本中的CNA。

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