论文标题
reads2vec:原始高通量测序的有效嵌入读取数据
Reads2Vec: Efficient Embedding of Raw High-Throughput Sequencing Reads Data
论文作者
论文摘要
自COVID-19大流行开始以来,SARS-COV-2出现的大量基因组数据挑战了研究其动力学的传统方法。结果,已经出现了将新方法(例如Pangolin)缩放到当前可用的数百万个SARS-COV-2样本。这样的工具被量身定制为输入组装,对齐和策划的全长序列,例如在GISAID数据库中发现的序列。随着高通量测序技术继续前进,这种组装,对齐和策展可能会变成瓶颈,从而需要直接处理原始测序的方法。 在本文中,我们提出了reads2vec,这是一种无对齐的嵌入方法,可以直接从原始测序读取中生成固定长度的特征向量表示,而无需组装。此外,由于这种嵌入是数值表示,因此可以应用于高度优化的分类和聚类算法。模拟数据上的实验表明,我们提出的嵌入获得了更好的分类结果,并且与现有无对齐基线相反的更好的聚类属性。在一项关于真实数据的研究中,我们表明,与穿衣工具相比,无对齐的嵌入具有更好的聚类特性,并且SARS-COV-2基因组的尖峰区域在很大程度上可以告知无排序的无对齐聚类,这与当前的SARS-COV-2的生物学知识一致。
The massive amount of genomic data appearing for SARS-CoV-2 since the beginning of the COVID-19 pandemic has challenged traditional methods for studying its dynamics. As a result, new methods such as Pangolin, which can scale to the millions of samples of SARS-CoV-2 currently available, have appeared. Such a tool is tailored to take as input assembled, aligned and curated full-length sequences, such as those found in the GISAID database. As high-throughput sequencing technologies continue to advance, such assembly, alignment and curation may become a bottleneck, creating a need for methods which can process raw sequencing reads directly. In this paper, we propose Reads2Vec, an alignment-free embedding approach that can generate a fixed-length feature vector representation directly from the raw sequencing reads without requiring assembly. Furthermore, since such an embedding is a numerical representation, it may be applied to highly optimized classification and clustering algorithms. Experiments on simulated data show that our proposed embedding obtains better classification results and better clustering properties contrary to existing alignment-free baselines. In a study on real data, we show that alignment-free embeddings have better clustering properties than the Pangolin tool and that the spike region of the SARS-CoV-2 genome heavily informs the alignment-free clusterings, which is consistent with current biological knowledge of SARS-CoV-2.