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Motivation A patient's disease phenotype can be driven and determined by specific groups of cells whose marker genes are either unknown or can only be detected at late-stage using conventional bulk assays such as RNA-Seq technology. Recent advances in single-cell RNA sequencing (scRNA-seq) enable gene expression profiling in cell-level resolution, and therefore have the potential to identify those cells driving the disease phenotype even while the number of these cells is small. However, most existing methods rely heavily on accurate cell type detection, and the number of available annotated samples is usually too small for training deep learning predictive models. Results Here, we propose the method ScRAT for phenotype prediction using scRNA-seq data. To train ScRAT with a limited number of samples of different phenotypes, such as coronavirus disease (COVID) and non-COVID, ScRAT first applies a mixup module to increase the number of training samples. A multi-head attention mechanism is employed to learn the most informative cells for each phenotype without relying on a given cell type annotation. Using three public COVID datasets, we show that ScRAT outperforms other phenotype prediction methods. The performance edge of ScRAT over its competitors increases as the number of training samples decreases, indicating the efficacy of our sample mixup. Critical cell types detected based on high-attention cells also support novel findings in the original papers and the recent literature. This suggests that ScRAT overcomes the challenge of missing marker genes and limited sample number with great potential revealing novel molecular mechanisms and/or therapies. Availability and implementation The code of our proposed method ScRAT is published at https://github.com/yuzhenmao/ScRAT. [ABSTRACT FROM AUTHOR]

Motivation Rapid spread of viral diseases such as Coronavirus disease 2019 (COVID-19) highlights an urgent need for efficient surveillance of virus mutation and transmission dynamics, which requires fast, inexpensive and accurate viral lineage assignment. The first two goals might be achieved through low-coverage whole-genome sequencing (LC-WGS) which enables rapid genome sequencing at scale and at reduced costs. Unfortunately, LC-WGS significantly diminishes the genomic details, rendering accurate lineage assignment very challenging. Results We present ViTAL, a novel deep learning algorithm specifically designed to perform lineage assignment of low coverage-sequenced genomes. ViTAL utilizes a combination of MinHash for genomic feature extraction and Vision Transformer for fine-grain genome classification and lineage assignment. We show that ViTAL outperforms state-of-the-art tools across diverse coverage levels, reaching up to 87.7% lineage assignment accuracy at 1 × coverage where state-of-the-art tools such as UShER and Kraken2 achieve the accuracy of 5.4% and 27.4% respectively. ViTAL achieves comparable accuracy results with up to 8 × lower coverage than state-of-the-art tools. We explore ViTAL's ability to identify the lineages of novel genomes, i.e. genomes the Vision Transformer was not trained on. We show how ViTAL can be applied to preliminary phylogenetic placement of novel variants. Availability and implementation The data underlying this article are available in https://github.com/zuherJahshan/vital and can be accessed with 10.5281/zenodo.10688110. [ABSTRACT FROM AUTHOR]