PO.BCS02.05 · 生物信息与计算

GLEAM:让高质量机器学习在癌症研究中普及化

GLEAM: Democratizing high-quality machine learning for cancer research

海报缩略图:GLEAM:让高质量机器学习在癌症研究中普及化
编号 5476 展板 12 时间 4/21 02:00–05:00 区域 Section 2 主讲 Paulo Morais Lyra, PhD
分会场 Deep Learning in Cancer
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作者与单位 Authors & Affiliations

Paulo Cilas Morais Lyra Junior1, Junhao Qiu1, Khai Dang1, Alyssa Pybus1, Maansi Singh1, Qiang Gu2, Luke Sargent2, Allison L. Creason2, Jeremy Goecks1

1Moffitt Cancer Center, Tampa, FL,2Knight Cancer Institute, Oregon Health & Science University, Portland, OR

摘要 Abstract

中文摘要
机器学习(ML)已彻底革新了生物医学研究,通过统计建模和模式识别,能够从大规模且往往高维的数据集中进行准确预测。ML应用的例子包括预测患者对癌症治疗的反应以及对癌症病灶进行分类。然而,缺乏关于如何开发、验证和交流ML模型的易获取、结构良好的指导,持续限制了其在研究中的常规和有效使用。为弥补这一空白,我们推出了面向Galaxy平台(一个广泛使用的生物信息学工作台)的第二代ML工具包。它命名为Galaxy学习与建模(GLEAM),围绕四项核心原则构建,针对癌症研究中的关键障碍:通过网页界面实现无代码可及性;通过标准化设置和报告遵循最佳实践;通过记录参数、数据版本、环境和工作流程实现可重现性;以及通过原生Galaxy集成实现可扩展性。我们的目标是提供端到端的ML工具,使研究人员能够配置、运行、评估和分享可供发表的分析。GLEAM集成了三个学习器工具:(1)用于结构化数据的表格学习器(Tabular Learner),(2)用于基于像素输入的图像学习器(Image Learner),以及(3)用于异质数据的多模态学习器(Multimodal Learner)。其AutoML后端分别为PyCaret、Ludwig和AutoGluon。用户提供数据集、标签和可选的元数据,GLEAM则自动完成预处理、特征提取、算法选择、超参数调优和交叉验证。作为概念验证,我们使用GLEAM工具运行已发表研究公开可用的数据集,并将模型指标与之比较以评估工具质量,从而重现了这些研究的结果。在HAM10000皮肤镜数据集上,使用深度学习模型的图像学习器达到了准确率0.86(对比已发表模型的0.86)、精确率0.85(对比0.88)、召回率0.85(对比0.85)和F1分数0.85(对比0.86),在该数据集的皮肤病灶分类中达到了最先进水平的结果。在LORIS免疫治疗反应数据集上,表格学习器达到了准确率0.80(对比0.70)、AUC 0.76(对比0.75)和PR-AUC 0.55(对比0.56),展示了对治疗反应的稳健预测。使用HANCOCK数据集预测头颈癌生存期时,多模态学习器达到了ROC AUC 0.74(对比0.79)。这一小幅下降反映了不同的建模策略,其中两个工程化的结构化模态被原始图像和纯文本输入所替代,在保持有竞争力的预测性能的同时大幅降低了预处理的复杂性。通过将GLEAM工具包嵌入Galaxy,我们将重点从工具开发转向知识提取。因此,该框架产出高质量、透明且可分享的模型,加速数据驱动的发现并支持癌症研究。
查看英文原文 English abstract
Machine learning (ML) has revolutionized biomedical research, enabling accurate prediction from large and often high-dimensional datasets through statistical modeling and pattern recognition. Examples of ML applications include predicting patient responses to cancer therapies and classifying cancer lesions. However, the lack of accessible, well-structured guidance on how to develop, validate, and communicate ML models continues to limit their routine and effective use in research. To address this gap, we introduce the second-generation ML toolkit for the Galaxy platform, a widely used bioinformatics workbench. Named Galaxy Learning and Modeling (GLEAM), it is built around four core principles that target critical barriers in cancer research: no-code accessibility through a web interface; adherence to best practices via standardized setups and reports; reproducibility by recording parameters, data versions, environments, and workflows; and scalability through native Galaxy integration. Our goal is to provide end-to-end ML tools that enable researchers to configure, run, evaluate, and share publication-ready analyses. GLEAM integrates three learner tools: (1) Tabular Learner for structured data, (2) Image Learner for pixel-based inputs, and (3) Multimodal Learner for heterogeneous data. The AutoML backends are PyCaret, Ludwig, and AutoGluon, respectively. Users supply datasets, labels, and optional metadata, and GLEAM automates preprocessing, feature extraction, algorithm selection, hyperparameter tuning, and cross-validation. As a proof of concept, we reproduced results from published studies using GLEAM tools by running their publicly available datasets and comparing model metrics to benchmark tool quality. On the HAM10000 dermoscopy dataset, the Image Learner, using a deep-learning model, achieved accuracy 0.86 (vs. 0.86 in published models), precision 0.85 (vs. 0.88), recall 0.85 (vs. 0.85), and F1 score 0.85 (vs. 0.86), matching state-of-the-art outcomes for skin lesion classification on this dataset. On the LORIS immunotherapy-response dataset, the Tabular Learner achieved accuracy 0.80 (vs. 0.70), AUC 0.76 (vs. 0.75), and PR-AUC 0.55 (vs. 0.56), demonstrating robust prediction of treatment response. Using the HANCOCK dataset to predict survival in head and neck cancer, the Multimodal Learner achieved an ROC AUC of 0.74 (vs. 0.79). This modest decrease reflects a different modeling strategy, in which two engineered structured modalities were replaced with raw image and plain-text inputs, substantially reducing preprocessing complexity while maintaining competitive predictive performance. By embedding the GLEAM toolkit within Galaxy, we shift the focus from tool development to knowledge extraction. As a result, the framework produces high-quality, transparent, and shareable models that accelerate data-driven discovery and support cancer research.
利益披露 Disclosure
P. Morais Lyra Junior, None.. J. Qiu, None.. K. Dang, None.. A. Pybus, None.. M. Singh, None.. Q. Gu, None.. L. Sargent, None.. J. Goecks, None.

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