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首页> 外文期刊>BMC Genomics >Prediction of enhancer-promoter interactions via natural language processing
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Prediction of enhancer-promoter interactions via natural language processing

机译:通过自然语言处理预测增强子与启动子的相互作用

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Precise identification of three-dimensional genome organization, especially enhancer-promoter interactions (EPIs), is important to deciphering gene regulation, cell differentiation and disease mechanisms. Currently, it is a challenging task to distinguish true interactions from other nearby non-interacting ones since the power of traditional experimental methods is limited due to low resolution or low throughput. We propose a novel computational framework EP2vec to assay three-dimensional genomic interactions. We first extract sequence embedding features, defined as fixed-length vector representations learned from variable-length sequences using an unsupervised deep learning method in natural language processing. Then, we train a classifier to predict EPIs using the learned representations in supervised way. Experimental results demonstrate that EP2vec obtains F1 scores ranging from 0.841~?0.933 on different datasets, which outperforms existing methods. We prove the robustness of sequence embedding features by carrying out sensitivity analysis. Besides, we identify motifs that represent cell line-specific information through analysis of the learned sequence embedding features by adopting attention mechanism. Last, we show that even superior performance with F1 scores 0.889~?0.940 can be achieved by combining sequence embedding features and experimental features. EP2vec sheds light on feature extraction for DNA sequences of arbitrary lengths and provides a powerful approach for EPIs identification.
机译:精确识别三维基因组组织,尤其是增强子-启动子相互作用(EPI),对于破译基因调控,细胞分化和疾病机制非常重要。当前,区分真正的相互作用与附近其他非相互作用的相互作用是一项艰巨的任务,因为由于分辨率低或通量低,传统实验方法的功能受到限制。我们提出了一种新颖的计算框架EP2vec来分析三维基因组相互作用。我们首先提取序列嵌入特征,定义为在自然语言处理中使用无监督的深度学习方法从可变长度序列中学习的固定长度向量表示形式。然后,我们训练分类器以监督方式使用学习到的表示来预测EPI。实验结果表明,EP2vec在不同数据集上获得的F1分数在0.841〜?0.933之间,优于现有方法。我们通过进行敏感性分析证明了序列嵌入特征的鲁棒性。此外,我们通过采用注意机制对学习到的序列嵌入特征进行分析,从而确定了代表细胞系特定信息的基序。最后,我们证明通过结合序列嵌入特征和实验特征,甚至可以获得F1分数为0.889〜?0.940的优异性能。 EP2vec揭示了任意长度DNA序列的特征提取,并为EPI的识别提供了一种有力的方法。

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