用本体增强嵌入模型,让神经退行性疾病组学数据更易查找和使用。
Enhancing Omics Cohort Discovery for Research on Neurodegeneration through Ontology-Augmented Embedding Models
- 用生物本体自动统一不同来源的样本元数据标签
- 使检索准确率从27.7%提升至86.6%,排名提升至89.6%
- 适合做神经退行性疾病组学分析的研究者使用
针对神经退行性疾病日益增长的组学与临床数据,传统方法难以高效整理。NeuroEmbed 提出一种构建语义精准嵌入空间的方法,包含四个阶段:(1) 从公共数据库提取神经退行性疾病队列;(2) 利用生物本体与嵌入空间聚类,半自动标准化并扩充队列与样本的元数据;(3) 基于标准化元数据维度随机组合,自动生成自然语言问答数据集;(4) 使用领域特定嵌入器对齐训练数据进行微调。以 GEO 数据库和 PubMedBERT 为例,共语义索引 2,801 个资源、150,924 个样本。将来自 GEO 的超过 1,700 种异构组织标签统一为 326 个本体对齐概念,元数据术语规模提升 2.7 至 20 倍。经微调后,模型平均检索精度由 0.277 提升至 0.866,平均百分位排名从 0.355 提升至 0.896。该方法可支持自动化生信分析流程构建。完整队列目录见 https://github.com/JoseAdrian3/NeuroEmbed。
原文摘要 · Abstract (English)
The growing volume of omics and clinical data generated for neurodegenerative diseases (NDs) requires new approaches for their curation so they can be ready-to-use in bioinformatics. NeuroEmbed is an approach for the engineering of semantically accurate embedding spaces to represent cohorts and samples. The NeuroEmbed method comprises four stages: (1) extraction of ND cohorts from public repositories; (2) semi-automated normalization and augmentation of metadata of cohorts and samples using biomedical ontologies and clustering on the embedding space; (3) automated generation of a natural language question-answering (QA) dataset for cohorts and samples based on randomized combinations of standardized metadata dimensions and (4) fine-tuning of a domain-specific embedder to optimize queries. We illustrate the approach using the GEO repository and the PubMedBERT pretrained embedder. Applying NeuroEmbed, we semantically indexed 2,801 repositories and 150,924 samples. Amongst many biology-relevant categories, we normalized more than 1,700 heterogeneous tissue labels from GEO into 326 unique ontology-aligned concepts and enriched annotations with new ontology-aligned terms, leading to a fold increase in size for the metadata terms between 2.7 and 20 fold. After fine-tuning PubMedBERT with the QA training data augmented with the enlarged metadata, the model increased its mean Retrieval Precision from 0.277 to 0.866 and its mean Percentile Rank from 0.355 to 0.896. The NeuroEmbed methodology for the creation of electronic catalogues of omics cohorts and samples will foster automated bioinformatic pipelines construction. The NeuroEmbed catalogue of cohorts and samples is available at https://github.com/JoseAdrian3/NeuroEmbed.
Thank you to arXiv for use of its open access interoperability. PaperDance 不是 arXiv 官方产品;中文卡片由大模型生成,请以原文为准。