构建含3.2%低质量样本的多特征NGS数据集,助力自动化质控研究
An Imbalanced Dataset with Multiple Feature Representations for Studying Quality Control of Next-Generation Sequencing

- 整合QC工具特征与基因组异常区读数特征,提供双类型特征表示
- 37,491个样本中3.2%为低质量,机器学习可准确预测质量标签
- 支持对比不同特征类型与粒度对质控效果的影响,适合基因组分析研究者
下一代测序(NGS)是研究生物体DNA和RNA的关键技术,但跨实验条件识别NGS数据质量问题仍具挑战。为开发自动化质控工具,需具备能捕捉质量问题特征的数据集。现有NGS库仅提供有限的质量相关特征。为此,我们构建了一个源自37,491个NGS样本的数据集,包含两类质量相关特征表示:第一类为34个来自质量控制工具的特征(QC-34特征);第二类为8至1,183个特征,基于ENCODE区块列表(BL)识别的异常基因组区域的读数生成。所有特征均来自人类和小鼠五个基因组检测的相同样本,支持特征表示间的直接比较。数据集包含由自动化质控与领域专家标注的二元质量标签,其中3.2%样本为低质量。监督学习算法能准确从特征中预测质量标签,验证了特征表示的相关性。该数据集使研究者可探究不同特征类型(QC-34 vs. BL特征)及粒度(不同数量的BL特征)对质量问题检测的影响。
原文摘要 · Abstract (English)
Next-generation sequencing (NGS) is a key technique for studying the DNA and RNA of organisms. However, identifying quality problems in NGS data across different experimental settings remains challenging. To develop automated quality-control tools, researchers require datasets with features that capture the characteristics of quality problems. Existing NGS repositories, however, offer only a limited number of quality-related features. To address this gap, we propose a dataset derived from 37,491 NGS samples with two types of quality-related feature representations. The first type consists of 34 features derived from quality control tools (QC-34 features). The second type has a variable number of features ranging from eight to 1,183. These features were derived from read counts in problematic genomic regions identified by the ENCODE blocklist (BL features). All features describe the same human and mouse samples from five genomic assays, allowing direct comparison of feature representations. The proposed dataset includes a binary quality label, derived from automated quality control and domain experts. Among all samples, $3.2\%$ are of low quality. Supervised machine learning algorithms accurately predicted quality labels from the features, confirming the relevance of the provided feature representations. The proposed feature representations enable researchers to study how different feature types (QC-34 vs. BL features) and granularities (varying number of BL features) affect the detection of quality problems.
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