PREDICTING GENE VARIANT PATHOGENICITY
    1.
    发明申请
    PREDICTING GENE VARIANT PATHOGENICITY 审中-公开
    预测基因变异致病性

    公开(公告)号:US20120310539A1

    公开(公告)日:2012-12-06

    申请号:US13471370

    申请日:2012-05-14

    IPC分类号: G06F19/00

    摘要: A computer-implemented, gene-specific prediction tool for classifying and interpreting gene tests is described. The prediction tool includes a predictor using a consensus framework. The predictor employs a weighted metric of existing and complementary prediction algorithms and calculated reference intervals of disease outcomes to calculate a consensus score used in interpreting gene tests.

    摘要翻译: 描述了用于分类和解释基因测试的计算机实现的基因特异性预测工具。 预测工具包括使用共识框架的预测变量。 预测器采用现有和补充预测算法的加权度量,并计算疾病预后的参考间隔,以计算用于解释基因测试的共识评分。

    Gene-specific prediction
    4.
    发明授权
    Gene-specific prediction 失效
    基因特异性预测

    公开(公告)号:US08744982B2

    公开(公告)日:2014-06-03

    申请号:US13471294

    申请日:2012-05-14

    IPC分类号: G06N5/04

    摘要: A gene-specific prediction tool for classifying and interpreting gene tests is described. The prediction tool includes a classifier trained and tested using databases of gene variants and their known phenotypes. The classifier uses differences between features of amino acids in obtaining attributes used to perform classification and generate predictions, including for benign and pathologic outcomes, for uncertain gene variants.

    摘要翻译: 描述了用于分类和解释基因测试的基因特异性预测工具。 预测工具包括使用基因变体数据库及其已知表型进行训练和测试的分类器。 分类器在获得用于分类的属性中使用氨基酸的特征之间的差异,并产生不确定基因变体的预测,包括良性和病理结果。

    GENE-SPECIFIC PREDICTION
    6.
    发明申请
    GENE-SPECIFIC PREDICTION 失效
    基因特异性预测

    公开(公告)号:US20120310863A1

    公开(公告)日:2012-12-06

    申请号:US13471294

    申请日:2012-05-14

    IPC分类号: G06F19/24 G06F15/18

    摘要: A gene-specific prediction tool for classifying and interpreting gene tests is described. The prediction tool includes a classifier trained and tested using databases of gene variants and their known phenotypes. The classifier uses differences between features of amino acids in obtaining attributes used to perform classification and generate predictions, including for benign and pathologic outcomes, for uncertain gene variants.

    摘要翻译: 描述了用于分类和解释基因测试的基因特异性预测工具。 预测工具包括使用基因变体数据库及其已知表型进行训练和测试的分类器。 分类器在获得用于分类的属性中使用氨基酸的特征之间的差异,并产生不确定基因变体的预测,包括良性和病理结果。