用于自动单元格类型注释的通用类别发现框架。

IF 4 Q1 GENETICS & HEREDITY NAR Genomics and Bioinformatics Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI:10.1093/nargab/lqae166
Francesco Ceccarelli, Pietro Liò, Sean B Holden
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引用次数: 0

摘要

单细胞RNA测序(scRNA-seq)数据中细胞类型的鉴定是理解复杂生物系统的关键任务。传统的监督式机器学习方法依赖于大型、标记良好的数据集,由于预算限制和信息不完整,这些数据集在开放世界场景中通常是不切实际的。为了解决这些挑战,我们提出了一个新的计算框架,命名为AnnoGCD,建立在通用类别发现(GCD)和异常检测(AD)的基础上,用于自动细胞类型标注。我们的半监督方法结合了标记和未标记的数据,以准确地分类已知的细胞类型并发现新的细胞类型,即使在不平衡的数据集中。AnnoGCD包括一个半监督块,首先对已知的细胞类型进行分类,然后是一个非监督块,旨在识别和聚类新的细胞类型。我们在5个人类scRNA-seq数据集和一个小鼠模型图谱上评估了我们的方法,与现有方法相比,在已知和新型细胞类型鉴定方面都表现出优越的性能。我们的模型在具有显著类别不平衡的数据集中也表现出鲁棒性。结果表明,AnnoGCD是自动标注scRNA-seq数据中细胞类型的强大工具,为生物学研究和临床应用提供了可扩展的解决方案。我们的代码和用于评估的数据集在GitHub上公开可用:https://github.com/cecca46/AnnoGCD/。
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AnnoGCD: a generalized category discovery framework for automatic cell type annotation.

The identification of cell types in single-cell RNA sequencing (scRNA-seq) data is a critical task in understanding complex biological systems. Traditional supervised machine learning methods rely on large, well-labeled datasets, which are often impractical to obtain in open-world scenarios due to budget constraints and incomplete information. To address these challenges, we propose a novel computational framework, named AnnoGCD, building on Generalized Category Discovery (GCD) and Anomaly Detection (AD) for automatic cell type annotation. Our semi-supervised method combines labeled and unlabeled data to accurately classify known cell types and to discover novel ones, even in imbalanced datasets. AnnoGCD includes a semi-supervised block to first classify known cell types, followed by an unsupervised block aimed at identifying and clustering novel cell types. We evaluated our approach on five human scRNA-seq datasets and a mouse model atlas, demonstrating superior performance in both known and novel cell type identification compared to existing methods. Our model also exhibited robustness in datasets with significant class imbalance. The results suggest that AnnoGCD is a powerful tool for the automatic annotation of cell types in scRNA-seq data, providing a scalable solution for biological research and clinical applications. Our code and the datasets used for evaluations are publicly available on GitHub: https://github.com/cecca46/AnnoGCD/.

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来源期刊
CiteScore
8.00
自引率
2.20%
发文量
95
审稿时长
15 weeks
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