颜林林 (2022-07-04 20:59):
#paper doi:10.1038/s41467-022-31236-0, Nature Communications, 2022, A convolutional neural network highlights mutations relevant to antimicrobial resistance in Mycobacterium tuberculosis. 本文建立了一套CNN(卷积神经网络)模型,从2万多个结核分枝杆菌的测序数据中,使用18个根据先验知识挑选的与其耐药性相关的基因座,将基因座的整个序列作为输入,以此来预测耐药性。结果显示,该CNN模型性能超过了目前其他基于传统机器学习方法和非卷积的常规神经网络方法。而且,由于深度学习方法提取了序列中的隐含特征信息,可以有效帮助预测未知突变对耐药性的影响。
IF:14.700Q1 Nature communications, 2022-07-02. DOI: 10.1038/s41467-022-31236-0 PMID: 35780211 PMCID:PMC9250494
A convolutional neural network highlights mutations relevant to antimicrobial resistance in Mycobacterium tuberculosis
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Abstract:
Long diagnostic wait times hinder international efforts to address antibiotic resistance in M. tuberculosis. Pathogen whole genome sequencing, coupled with statistical and machine learning models, offers a promising solution. However, generalizability and clinical adoption have been limited by a lack of interpretability, especially in deep learning methods. Here, we present two deep convolutional neural networks that predict antibiotic resistance phenotypes of M. tuberculosis isolates: a multi-drug CNN (MD-CNN), that predicts resistance to 13 antibiotics based on 18 genomic loci, with AUCs 82.6-99.5% and higher sensitivity than state-of-the-art methods; and a set of 13 single-drug CNNs (SD-CNN) with AUCs 80.1-97.1% and higher specificity than the previous state-of-the-art. Using saliency methods to evaluate the contribution of input sequence features to the SD-CNN predictions, we identify 18 sites in the genome not previously associated with resistance. The CNN models permit functional variant discovery, biologically meaningful interpretation, and clinical applicability.
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