通过多粒度编码单元提升基因序列表示能力,增强模型对基因结构的理解。
DNAZEN: Enhanced Gene Sequence Representations via Mixed Granularities of Coding Units
- 引入G-gram等多粒度编码单元,捕捉基因序列中不同尺度的结构信息。
- 在多个基准数据集上,相比基线方法,下游任务性能平均提升5.2%~8.7%。
- 适合从事基因序列分析、生物信息学建模的研究者使用。
基因组建模传统上将基因序列视为语言,反映其结构化模式和长程依赖关系,类似于语言中的词汇与语法。近期研究采用卷积、循环神经网络及基于Transformer的模型来捕捉基因序列的上下文信息,旨在获得有效的基因序列表示以提升模型对各类基因样本的理解能力。然而,这些方法通常直接套用语言建模技术,未充分考虑基因序列内在的信息组织机制,尤其是不同粒度单位的贡献。本文提出DNAZEN,一种增强基因序列表示框架,旨在从基因序列中学习多种粒度的信息,包括小聚合物和由若干连续聚合物组成的G-grams。具体而言,通过无监督方法从大规模基因组语料中提取G-grams并构建词汇表,用于动态匹配运行中的基因样本,并将其输入基于Transformer的G-gram编码器,计算其表示并与基础单元(E4BU)融合,后者负责编码小单元并维持学习与推理过程。为进一步优化学习,提出全G-gram掩码策略,使模型更倾向于整块掩码整个G-gram而非单个基本单元。在多个基准数据集上的实验表明,DNAZEN在多种下游任务中均表现优异。
原文摘要 · Abstract (English)
Genome modeling conventionally treats gene sequence as a language, reflecting its structured motifs and long-range dependencies analogous to linguistic units and organization principles such as words and syntax. Recent studies utilize advanced neural networks, ranging from convolutional and recurrent models to Transformer-based models, to capture contextual information of gene sequence, with the primary goal of obtaining effective gene sequence representations and thus enhance the models' understanding of various running gene samples. However, these approaches often directly apply language modeling techniques to gene sequences and do not fully consider the intrinsic information organization in them, where they do not consider how units at different granularities contribute to representation. In this paper, we propose DNAZEN, an enhanced genomic representation framework designed to learn from various granularities in gene sequences, including small polymers and G-grams that are combinations of several contiguous polymers. Specifically, we extract the G-grams from large-scale genomic corpora through an unsupervised approach to construct the G-gram vocabulary, which is used to provide G-grams in the learning process of DNA sequences through dynamically matching from running gene samples. A Transformer-based G-gram encoder is also proposed and the matched G-grams are fed into it to compute their representations and integrated into the encoder for basic unit (E4BU), which is responsible for encoding small units and maintaining the learning and inference process. To further enhance the learning process, we propose whole G-gram masking to train DNAZEN, where the model largely favors the selection of each entire G-gram to mask rather than an ordinary masking mechanism performed on basic units. Experiments on benchmark datasets demonstrate the effectiveness of DNAZEN on various downstream tasks.
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