基于高斯分布原型网络的基因组变异检测

Jiarun Cao, Niels Peek, A. Renehan, S. Ananiadou
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引用次数: 0

摘要

利用文本挖掘技术自动识别癌症文献中的基因突变已成为研究大量癌症医学文献的重要途径。然而,关于遗传变异的新知识迅速扩散,尽管目前的监督学习模型很难发现这些未知的实体类型。Few-shot学习允许模型在新的实体类型上进行有效的泛化,这在识别癌症突变检测中尚未得到探索。本文讨论了基于少采样学习范式的癌症突变检测任务。我们提出了GDPN框架,该框架从支持集中的训练样本中建模标签依赖,并通过高斯分布近似过渡分数。在三个基准癌症突变数据集上的实验表明了该模型的有效性。
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Gaussian Distributed Prototypical Network for Few-shot Genomic Variant Detection
Automatically identifying genetic mutations in the cancer literature using text mining technology has been an important way to study the vast amount of cancer medical literature. However, novel knowledge regarding the genetic variants proliferates rapidly, though current supervised learning models struggle with discovering these unknown entity types. Few-shot learning allows a model to perform effectively with great generalization on new entity types, which has not been explored in recognizing cancer mutation detection. This paper addresses cancer mutation detection tasks with few-shot learning paradigms. We propose GDPN framework, which models the label dependency from the training examples in the support set and approximates the transition scores via Gaussian distribution. The experiments on three benchmark cancer mutation datasets show the effectiveness of our proposed model.
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