School of Microelectronics and Communication Engineering, Chongqing University, 174 Shapingba District, Chongqing, 400044, China.
Department of Otolaryngology, The First Affiliated Hospital of Chongqing Medical University, NO. 1 Youyi Road, Yuzhong District, Chongqing, 400016, China.
BMC Bioinformatics. 2023 Feb 20;24(1):56. doi: 10.1186/s12859-023-05182-7.
Sudden sensorineural hearing loss is a common and frequently occurring condition in otolaryngology. Existing studies have shown that sudden sensorineural hearing loss is closely associated with mutations in genes for inherited deafness. To identify these genes associated with deafness, researchers have mostly used biological experiments, which are accurate but time-consuming and laborious. In this paper, we proposed a computational method based on machine learning to predict deafness-associated genes. The model is based on several basic backpropagation neural networks (BPNNs), which were cascaded as multiple-level BPNN models. The cascaded BPNN model showed a stronger ability for screening deafness-associated genes than the conventional BPNN. A total of 211 of 214 deafness-associated genes from the deafness variant database (DVD v9.0) were used as positive data, and 2110 genes extracted from chromosomes were used as negative data to train our model. The test achieved a mean AUC higher than 0.98. Furthermore, to illustrate the predictive performance of the model for suspected deafness-associated genes, we analyzed the remaining 17,711 genes in the human genome and screened the 20 genes with the highest scores as highly suspected deafness-associated genes. Among these 20 predicted genes, three genes were mentioned as deafness-associated genes in the literature. The analysis showed that our approach has the potential to screen out highly suspected deafness-associated genes from a large number of genes, and our predictions could be valuable for future research and discovery of deafness-associated genes.
突发性聋是耳鼻喉科常见且高发的疾病。现有研究表明,突发性聋与遗传性耳聋基因的突变密切相关。为了鉴定这些耳聋相关基因,研究人员多采用生物学实验的方法,虽然准确但费时费力。本文提出了一种基于机器学习的计算方法来预测耳聋相关基因。该模型基于几个基本的反向传播神经网络(BPNN),这些神经网络级联形成了多级 BPNN 模型。级联 BPNN 模型在筛选耳聋相关基因方面的能力强于传统的 BPNN。总共使用了 214 个来自耳聋变异数据库(DVD v9.0)的耳聋相关基因作为阳性数据,以及从染色体中提取的 2110 个基因作为阴性数据来训练我们的模型。测试的平均 AUC 值高于 0.98。此外,为了说明该模型对疑似耳聋相关基因的预测性能,我们分析了人类基因组中剩余的 17711 个基因,并筛选出得分最高的 20 个基因作为高度疑似的耳聋相关基因。在这 20 个预测的基因中,有 3 个基因在文献中被提及与耳聋相关。分析表明,我们的方法有可能从大量基因中筛选出高度疑似的耳聋相关基因,我们的预测结果对未来耳聋相关基因的研究和发现可能具有重要价值。