用双曲空间建模基因组,更准确捕捉进化结构。
Hyperbolic Genome Embeddings
- 用双曲卷积神经网络建模基因序列,天然适配进化树结构。
- 在42个基准数据集中的37个上超越欧氏模型,7个超主流DNA语言模型。
- 参数量少、无需预训练,适合资源受限的基因功能分析。
现有基因组序列建模方法常难以匹配机器学习模型的归纳偏置与生物系统的进化结构。本文提出一种新型双曲卷积神经网络应用,利用这一结构生成更具表现力的DNA序列表示。该方法无需显式构建系统发育图谱,即可揭示序列在核心功能与调控行为上的关键特征。在42个基因组解析基准数据集中的37个上,双曲模型表现优于其欧氏对应模型;尤其在7个GUE基准上超越当前最佳性能,且参数量仅为后者的数分之一,无需预训练。研究还引入新的转座元件基准数据集(Transposable Elements Benchmark),探索基因组中重要但研究不足的演化成分。通过分析不同数据生成条件下的信号识别能力,并提出一种评估数据嵌入双曲性的经验方法,持续验证了该框架在基因组表征学习中的稳健潜力。代码与数据集已开源。
原文摘要 · Abstract (English)
Current approaches to genomic sequence modeling often struggle to align the inductive biases of machine learning models with the evolutionarily-informed structure of biological systems. To this end, we formulate a novel application of hyperbolic CNNs that exploits this structure, enabling more expressive DNA sequence representations. Our strategy circumvents the need for explicit phylogenetic mapping while discerning key properties of sequences pertaining to core functional and regulatory behavior. Across 37 out of 42 genome interpretation benchmark datasets, our hyperbolic models outperform their Euclidean equivalents. Notably, our approach even surpasses state-of-the-art performance on seven GUE benchmark datasets, consistently outperforming many DNA language models while using orders of magnitude fewer parameters and avoiding pretraining. Our results include a novel set of benchmark datasets--the Transposable Elements Benchmark--which explores a major but understudied component of the genome with deep evolutionary significance. We further motivate our work by exploring how our hyperbolic models recognize genomic signal under various data-generating conditions and by constructing an empirical method for interpreting the hyperbolicity of dataset embeddings. Throughout these assessments, we find persistent evidence highlighting the potential of our hyperbolic framework as a robust paradigm for genome representation learning. Our code and benchmark datasets are available at https://github.com/rrkhan/HGE.
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