SYSTEMS AND METHODS FOR TUMOR CLONALITY ANALYSIS
    1.
    发明申请
    SYSTEMS AND METHODS FOR TUMOR CLONALITY ANALYSIS 审中-公开
    肿瘤克隆分析系统与方法

    公开(公告)号:US20150261912A1

    公开(公告)日:2015-09-17

    申请号:US14434397

    申请日:2014-04-17

    IPC分类号: G06F19/18 G06F19/22

    摘要: Systems and methods of genomic analysis are presented that provide a framework to determine a tumor's clonality, the number and proportion of all major clones, and the variants that distinguish them. Contemplated systems and methods also allow phasing mutations to parental alleles to so time their emergence within the population of tumor cells, and provide an accurate estimate of the amount of contaminating normal tissue that was present in the tumor biopsy.

    摘要翻译: 提供了基因组分析的系统和方法,其提供了确定肿瘤的克隆性,所有主要克隆的数量和比例以及区分它们的变体的框架。 考虑的系统和方法还允许相对于亲本等位基因的相位突变,以使其在肿瘤细胞群体内出现,并提供对肿瘤活检中存在的污染正常组织的量的准确估计。

    Systems and Methods For RNA Analysis In Functional Confirmation Of Cancer Mutations
    6.
    发明申请
    Systems and Methods For RNA Analysis In Functional Confirmation Of Cancer Mutations 审中-公开
    用于RNA分析的系统和方法在癌症突变的功能确认中

    公开(公告)号:US20150278435A1

    公开(公告)日:2015-10-01

    申请号:US14668518

    申请日:2015-03-25

    IPC分类号: G06F19/18 G06F19/22

    CPC分类号: G06F19/18 G06F19/22 G06F19/28

    摘要: Contemplated systems and methods integrate genomic/exomic data with transcriptomic data by correlating a cancer associated mutation in the genome/exome with the transcription level of the affected gene carrying the mutation, particularly where the mutation is a 3-terminal nonsense mutation.

    摘要翻译: 考虑的系统和方法通过将基因组/外显子中的癌症相关突变与携带突变的受影响基因的转录水平相关联,特别是在突变是3末端无义突变的情况下,将基因组/外显子数据与转录组数据相结合。