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EXTRACTING RELATED MEDICAL INFORMATION FROM DIFFERENT DATA SOURCES FOR AUTOMATED GENERATION OF PROGNOSIS, DIAGNOSIS, AND PREDISPOSITION INFORMATION IN CASE SUMMARY

机译:从不同的数据源中提取相关的医学信息,以自动生成预案,诊断和前置信息

摘要

According to embodiments of the present invention, methods, systems and computer readable media are provided for extracting related medical information from various sources to produce a medical evaluation. Genomic information provided from a patient tumor sample is analyzed to determine the presence of one or more mutations in the tumor sample. Hierarchical matching is performed to match the one or more mutations from the patient sample to curated structured data derived from literature. One or more of a prognosis, diagnosis, or predisposition is evaluated based on the matching, wherein the one or more mutations is predictive of a prognosis for a type of tumor, and is a diagnostic marker of a type of tumor. When a pathogenic mutation is detected for a predisposition, a report is generated regarding whether the pathogenic mutation is associated with hereditary cancer.
机译:根据本发明的实施例,提供了用于从各种来源提取相关医学信息以产生医学评估的方法,系统和计算机可读介质。分析从患者肿瘤样品提供的基因组信息,以确定肿瘤样品中一种或多种突变的存在。进行层次匹配,以将患者样本中的一个或多个突变与从文献中获得的精选结构化数据进行匹配。基于所述匹配评估一种或多种预后,诊断或易感性,其中所述一种或多种突变可预测肿瘤类型的预后,并且是所述肿瘤类型的诊断标记。当检测到易感性的致病性突变时,将生成有关致病性突变是否与遗传性癌症相关的报告。

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