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公开(公告)号：US09284594B2
公开(公告)日：2016-03-15
申请号：US14317606
申请日：2014-06-27
CPC分类号： C12Q1/37 , G01N33/6848 , G01N2800/7028
摘要： The present invention provides fusion proteins as biomarkers specific for chromosomal translocation-based conditions (e.g., cancer), related methods for detecting fusion protein biomarkers associated with chromosomal translocation-based conditions, related methods for quantifying amount of fusion protein expression, and related methods for diagnosing chromosomal translocation-based conditions through detection of such fusion protein biomarkers. Such fusion protein biomarkers and related methods additionally find use in research settings.
摘要翻译： 本发明提供了融合蛋白作为基于染色体易位的条件（例如，癌症）特异性的生物标志物，用于检测与染色体易位基础条件相关的融合蛋白生物标志物的相关方法，用于定量融合蛋白表达量的相关方法以及相关方法 通过检测这种融合蛋白生物标志物来诊断基于染色体易位的病症。 此类融合蛋白生物标志物和相关方法还可用于研究设置。
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公开(公告)号：US20150193578A1
公开(公告)日：2015-07-09
申请号：US14590427
申请日：2015-01-06
发明人： Mark J. Kiel , Kojo Elenitoba-Johnson , Megan Lim
IPC分类号： G06F19/22
摘要： A genomic variant analysis method and computer system utilizing information related to variant frequency and biological consequence to determine the relative statistical significance of each variant in given genome sequence datasets. The method and system perform both variant frequency normalization and universal pairwise variant comparisons across the given genome sequence datasets to automatically identify the likelihood of any given variant as contributing to disease process or biological phenomenon under study and organize the results into a priority ranking. The priority ranking is then used to categorize the results into biologically-related data subsets for display to indicate potential for importance.
摘要翻译： 使用与变异频率和生物学结果相关的信息的基因组变体分析方法和计算机系统来确定给定基因组序列数据集中每个变体的相对统计学显着性。 该方法和系统在给定的基因组序列数据集上进行变异频率归一化和通用成对变体比较，以自动识别任何给定变体对研究过程中的疾病过程或生物学现象的可能性，并将结果组织成优先级排序。 然后将优先级排序用于将结果分类为与生物相关的数据子集以进行显示，以表明重要的潜力。
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