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周帆, 张艳菊. 基于深度学习的PacBio第三代DNA测序数据在低测序深度下的纠错算法J. 桂林电子科技大学学报, 2026, 46(4): 379-385. DOI: 10.16725/j.1673-808X.2023204
引用本文: 周帆, 张艳菊. 基于深度学习的PacBio第三代DNA测序数据在低测序深度下的纠错算法J. 桂林电子科技大学学报, 2026, 46(4): 379-385. DOI: 10.16725/j.1673-808X.2023204
Zhou Fan, Zhang Yanju. Deep learning-based error-correction algorithm for PacBio third-generation DNA sequencing data at low sequencing depthJ. Journal of Guilin University of Electronic Technology, 2026, 46(4): 379-385. DOI: 10.16725/j.1673-808X.2023204
Citation: Zhou Fan, Zhang Yanju. Deep learning-based error-correction algorithm for PacBio third-generation DNA sequencing data at low sequencing depthJ. Journal of Guilin University of Electronic Technology, 2026, 46(4): 379-385. DOI: 10.16725/j.1673-808X.2023204

基于深度学习的PacBio第三代DNA测序数据在低测序深度下的纠错算法

Deep learning-based error-correction algorithm for PacBio third-generation DNA sequencing data at low sequencing depth

  • 摘要: 针对PacBio公司的SMRT技术所产出的第三代DNA长读段测序数据错误率较高(约10%~15%)、现有自校正方法依赖较高测序深度,在校正过程中存在丢弃、分割测序数据的问题,提出了一个基于深度学习的纠错算法(PBECTool)。PBECTool由序列编码、模型训练、生成结果3个步骤组成。先用一种新的编码方式将测序数据的比对结果及参考基因组和测序质量这三类信息编码成堆积图,从而将纠错任务与图像分类任务联系起来;再用pytorch框架在经典的CNN模型inception系列的基础上构建模型,用来特征提取;最后根据训练后的模型的推理结果生成FASTA文件作为纠错后的结果文件输出。分别在大肠杆菌和酿酒酵母的低测序深度数据集上将PBECTool与4种现有的采取不同策略的自校正方法进行对比,在大肠杆菌数据集上,PBECTool准确率超过了99%,在酿酒酵母数据集上达97%,均高于其他4种方法。此外,在输出深度、基因组覆盖率、输出长度指标上,PBECTool也优于其他4种方法。实验结果表明,PBECTool能有效地对低测序深度的第三代DNA测序数据进行纠错。

     

    Abstract: Pacific BioScience (PacBio) long-read sequencing data exhibit relatively high error rates, typically ranging from 10% to 15%. Existing self-correction methods generally require high sequencing depth and may discard or fragment reads during the correction process. To address these limitations, a deep learning-based error correction method, termed PBECToo, is proposed. PBECTool consists of three stages: sequence encoding, model training, and correction result generation. A novel encoding method is designed to transform sequence alignment information, reference genome data and sequencing quality scores into a stacked image representation, thereby reformulating error correction as an image classification problem. Finally, corrected FASTA sequences are generated according to the model inference results. PBECTool achieved accuracies exceeding 99% on the E. coli dataset and 97% on the S. cerevisiae dataset, outperforming all competing methods. It also achieved superior performance in terms of output depth, genome coverage, and corrected read length. Experimental results demonstrate the effectiveness of PBECTool for correcting low-depth third-generation sequencing data.

     

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