METHODS AND SYSTEMS FOR INTERPRETATION AND REPORTING OF SEQUENCE-BASED GENETIC TESTS
    1.
    发明申请
    METHODS AND SYSTEMS FOR INTERPRETATION AND REPORTING OF SEQUENCE-BASED GENETIC TESTS 审中-公开
    用于解释和报告基于序列的遗传测试的方法和系统

    公开(公告)号:US20150379193A1

    公开(公告)日:2015-12-31

    申请号:US14319986

    申请日:2014-06-30

    CPC classification number: G16B50/00 G16B20/00

    Abstract: Disclosed herein are system, method, and computer program product embodiments for aiding in the interpretation of variants observed in clinical sequencing data. An embodiment operates by receiving clinical trial enrollment criteria from a user, including but not limited to genetic targeting criteria; searching a knowledge base of patient test information received from a plurality of independent entities for patients that match the clinical trial enrollment criteria; and providing to the user search results for consented patients that match the clinical trial enrollment criteria.

    Abstract translation: 本文公开了用于帮助解释在临床测序数据中观察到的变体的系统,方法和计算机程序产品实施例。 实施例通过从用户接收临床试验注册标准来操作,包括但不限于基因靶向标准; 搜索从多个独立实体接收的符合临床试验注册标准的患者的患者测试信息的知识库; 并向用户提供符合临床试验注册标准的同意患者的搜索结果。

    METHODS AND SYSTEMS FOR INTERPRETATION AND REPORTING OF SEQUENCE-BASED GENETIC TESTS USING POOLED ALLELE STATISTICS
    3.
    发明申请
    METHODS AND SYSTEMS FOR INTERPRETATION AND REPORTING OF SEQUENCE-BASED GENETIC TESTS USING POOLED ALLELE STATISTICS 审中-公开
    用于解释和报告基于序列的遗传测试的方法和系统

    公开(公告)号:US20160048564A1

    公开(公告)日:2016-02-18

    申请号:US14460568

    申请日:2014-08-15

    CPC classification number: G16H10/20 G16B50/00

    Abstract: Disclosed herein are system, method, and computer program product embodiments for building a community database of allele counts. An embodiment operates by receiving human variant datasets derived from samples generated by distinct users, wherein the users consented to share pooled variant observations with other users; determining that a plurality of variant observations meet the inclusion criteria for a pool; and calculating one or more anonymized allele statistics from the pool.

    Abstract translation: 本文公开了用于构建等位基因计数的社区数据库的系统,方法和计算机程序产品实施例。 实施例通过接收从不同用户生成的样本得到的人类变体数据集来操作,其中用户同意与其他用户共享合并的变体观察值; 确定多个变体观察符合泳池的入选标准; 以及从池中计算一个或多个匿名等位基因统计信息。

Patent Agency Ranking