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Intelligent classification of clinically actionable Genetic Mutations based on clinical evidences

机译:基于临床证据的临床可行遗传突变智能分类

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Cancer is the most worried ailment as the percentage of cancer patients is increasing in huge number. The early diagnosis and prognosis of a cancer type plays important role for the treatment and for clinical management of patients as well as its been important topic of research. For early detection, treatment and related recovery, examination of genes is important. Consequently, customized medicinal drug plays an essential component in treating the cancer. The personalized medicines are advised by means of studying the genetic profile of an individual with disorder. However, adopting personalized medicine in cancer treatment is happening slowly due to the big quantity of manual work is still required. Once sequenced, most cancers tumor can have hundreds of genetic mutations. However distinguishing the mutations that contribute to tumor growth from the neutral mutations is hard. The genetic mutations needs to be categorized to sort of cancer by means of considering clinical studies papers or medical observations. Currently this interpretation of genetic mutations is being completed manually. That is a very time-eating task wherein a medical specialist has to manually evaluate and classify every single genetic mutation primarily based on evidence from textual content-based medical literature. Therefore way to intelligently classify these clinically actionable genetic mutations primarily based on the clinical evidences remains a hassle to deal with. In this paper, to classify genetic mutations based on clinical evidences, the one hot encoding technique is used for extracting features from genes and their variations and tf-idf technique is used for extracting features from clinical text data. The classification is done using logistic regression. The results shows 64% classification accuracy. The accuracy is achieved using stratified K-Folds cross-validation.
机译:癌症是最担心的疾病,因为癌症患者的百分比越来越大。癌症类型的早期诊断和预后对治疗以及患者的临床管理以及重要的研究题目起着重要作用。对于早期检测,治疗和相关的恢复,基因的检查是重要的。因此,定制的药物药物在治疗癌症时起到重要组分。通过研究个体的遗传概况与疾病进行遗传概况来建议个性化药物。然而,由于仍然需要大量的手工工作,采用癌症治疗中的个性化药物正在缓慢地发生。一旦测序,大多数癌症肿瘤都可以具有数百种遗传突变。然而,区分有助于从中性突变的肿瘤生长的突变是难以的。通过考虑临床研究论文或医学观察,需要将基因突变分类为癌症。目前,这种遗传突变的解释是手动完成的。这是一种非常饮食的任务,其中医学专家必须主要基于基于文本内容的医学文献的证据来手动评估和分类每个单一的基因突变。因此,智能地分类这些临床可行的遗传突变主要基于临床证据仍然是处理的麻烦。在本文中,为了基于临床证据对基因突变进行分类,一种热编码技术用于从基因提取特征及其变型和TF-IDF技术用于从临床文本数据中提取特征。使用逻辑回归完成分类。结果显示了64%的分类准确性。使用分层k折叠交叉验证实现的精度。

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