GenBench: A Benchmarking Suite for Systematic Evaluation of Genomic Foundation Models

Zicheng Liu, Jiahui Li, Siyuan Li, Zelin Zang, Cheng Tan, Yufei Huang, Yajing Bai, Stan Z. Li
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Abstract

The Genomic Foundation Model (GFM) paradigm is expected to facilitate the extraction of generalizable representations from massive genomic data, thereby enabling their application across a spectrum of downstream applications. Despite advancements, a lack of evaluation framework makes it difficult to ensure equitable assessment due to experimental settings, model intricacy, benchmark datasets, and reproducibility challenges. In the absence of standardization, comparative analyses risk becoming biased and unreliable. To surmount this impasse, we introduce GenBench, a comprehensive benchmarking suite specifically tailored for evaluating the efficacy of Genomic Foundation Models. GenBench offers a modular and expandable framework that encapsulates a variety of state-of-the-art methodologies. Through systematic evaluations of datasets spanning diverse biological domains with a particular emphasis on both short-range and long-range genomic tasks, firstly including the three most important DNA tasks covering Coding Region, Non-Coding Region, Genome Structure, etc. Moreover, We provide a nuanced analysis of the interplay between model architecture and dataset characteristics on task-specific performance. Our findings reveal an interesting observation: independent of the number of parameters, the discernible difference in preference between the attention-based and convolution-based models on short- and long-range tasks may provide insights into the future design of GFM.
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GenBench:用于系统评估基因组基础模型的基准套件
基因组基础模型(GFM)范式有望促进从海量基因组数据中提取可通用的表征,从而使其能够应用于各种下游应用。尽管取得了进展,但由于实验设置、模型复杂性、基准数据集和可重复性方面的挑战,评估框架的缺乏使公平评估难以得到保证。在缺乏标准化的情况下,比较分析有可能变得有失偏颇和不可靠。为了打破这一僵局,我们推出了 GenBench,这是一个专门用于评估基因组基础模型功效的综合基准套件。GenBench 提供了一个模块化、可扩展的框架,囊括了各种最先进的方法。通过对横跨不同生物领域的数据集进行系统评估,特别强调短程和远程基因组任务,首先包括三个最重要的 DNA 任务,涵盖编码区、非编码区、基因组结构等。此外,我们还对模型架构和数据集特征之间的相互作用进行了细致的分析。我们的发现揭示了一个有趣的现象:与参数数量无关,基于注意力的模型和基于卷积的模型在短程和远程任务上存在明显的偏好差异,这可能会为未来的 GFM 设计提供启示。
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