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The existence of doublets in single-cell RNA sequencing (scRNA-seq) data poses a great challenge in downstream data analysis. Computational doublet-detection methods have been developed to remove doublets from scRNA-seq data. Yet, the…

Quantitative Methods · Quantitative Biology 2023-02-07 Nan Miles Xi , Angelos Vasilopoulos

Recent advances in technology have enabled the measurement of RNA levels for individual cells. Compared to traditional tissue-level bulk RNA-seq data, single cell sequencing yields valuable insights about gene expression profiles for…

Applications · Statistics 2019-04-16 Lingxue Zhu , Jing Lei , Bernie Devlin , Kathryn Roeder

The application of machine learning to transcriptomics data has led to significant advances in cancer research. However, the high dimensionality and complexity of RNA sequencing (RNA-seq) data pose significant challenges in pan-cancer…

Genomics · Quantitative Biology 2024-08-15 Jong Hyun Kim , Jongseong Jang

Background: Single-cell RNA sequencing (scRNA-seq) is a powerful profiling technique at the single-cell resolution. Appropriate analysis of scRNA-seq data can characterize molecular heterogeneity and shed light into the underlying cellular…

Applications · Statistics 2019-08-05 Siamak Zamani Dadaneh , Paul de Figueiredo , Sing-Hoi Sze , Mingyuan Zhou , Xiaoning Qian

Sequencing costs currently prohibit the application of single-cell mRNA-seq to many biological and clinical analyses. Targeted single-cell mRNA-sequencing reduces sequencing costs by profiling reduced gene sets that capture biological…

Genomics · Quantitative Biology 2022-02-15 Xiaoqiao Chen , Sisi Chen , Matt Thomson

Biomedical imaging and RNA sequencing with single-cell resolution improves our understanding of white blood cell diseases like leukemia. By combining morphological and transcriptomic data, we can gain insights into cellular functions and…

Computer Vision and Pattern Recognition · Computer Science 2024-08-26 Gizem Mert , Ario Sadafi , Raheleh Salehi , Nassir Navab , Carsten Marr

HybridQC is an R package that streamlines quality control (QC) of single-cell RNA sequencing (scRNA-seq) data by combining traditional threshold-based filtering with machine learning-based outlier detection. It provides an efficient and…

Genomics · Quantitative Biology 2025-07-14 Kaitao Lai

Deep learning, particularly with the advancement of Large Language Models, has transformed biomolecular modeling, with protein language models such as ESM inspiring emerging RNA language models such as RiNALMo. Recent work has begun…

Biomolecules · Quantitative Biology 2026-05-18 Taehan Kim , Sangdae Nam

Single-cell RNA sequencing (scRNA-seq) is essential for decoding tumor heterogeneity. However, pan-cancer research still faces two key challenges: learning discriminative and efficient single-cell representations, and establishing a…

Genomics · Quantitative Biology 2025-12-04 Xiaoshui Huang , Tianlin Zhu , Yifan Zuo , Xue Xia , Zonghan Wu , Jiebin Yan , Dingli Hua , Zongyi Xu , Yuming Fang , Jian Zhang

Single-cell RNA sequencing (scRNA-seq) enables the study of cellular diversity at single cell level. It provides a global view of cell-type specification during the onset of biological mechanisms such as developmental processes and human…

Machine Learning · Computer Science 2025-11-05 Muhammad Umar , Andras Lakatos , Muhammad Asif , Arif Mahmood

Convolutional neural networks (CNNs) are widely used for high-stakes applications like medicine, often surpassing human performance. However, most explanation methods rely on post-hoc attribution, approximating the decision-making process…

Machine Learning · Computer Science 2026-02-23 Kerol Djoumessi , Philipp Berens

Single-cell RNA sequencing (scRNA-seq), especially temporally resolved datasets, enables genome-wide profiling of gene expression dynamics at single-cell resolution across discrete time points. However, current technologies provide only…

Genomics · Quantitative Biology 2025-11-19 Yue Ling , Peiqi Zhang , Zhenyi Zhang , Peijie Zhou

Motivation: High-throughput sequencing enables expression analysis at the level of individual transcripts. The analysis of transcriptome expression levels and differential expression estimation requires a probabilistic approach to properly…

Genomics · Quantitative Biology 2012-10-10 Peter Glaus , Antti Honkela , Magnus Rattray

Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cells without sample pooling or RNA extraction. Currently, there is no algorithm optimized…

scRNA-seq clustering is a critical task for analyzing single-cell RNA sequencing (scRNA-seq) data, as it groups cells with similar gene expression profiles. Transformers, as powerful foundational models, have been applied to scRNA-seq…

Machine Learning · Computer Science 2026-02-10 Zhuomin Liang , Liang Bai , Xian Yang

Motivation: The mapping of RNA-seq reads to their transcripts of origin is a fundamental task in transcript expression estimation and differential expression scoring. Where ambiguities in mapping exist due to transcripts sharing sequence,…

Genomics · Quantitative Biology 2015-01-28 James Hensman , Peter Glaus , Antti Honkela , Magnus Rattray

Sparse autoencoders (SAEs) have lately been used to uncover interpretable latent features in large language models. By projecting dense embeddings into a much higher-dimensional and sparse space, learned features become disentangled and…

Machine Learning · Computer Science 2025-07-30 Viktoria Schuster

Self-supervised pretraining (SSP) has been recognized as a method to enhance prediction accuracy in various downstream tasks. However, its efficacy for DNA sequences remains somewhat constrained. This limitation stems primarily from the…

Machine Learning · Computer Science 2024-05-15 Tong Yu , Lei Cheng , Ruslan Khalitov , Erland Brandser Olsson , Zhirong Yang

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan

Pan-cancer classification using transcriptomic (RNA-Seq) data can inform tumor subtyping and therapy selection, but is challenging due to extremely high dimensionality and limited sample sizes. In this study, we propose a novel deep…

Genomics · Quantitative Biology 2025-08-06 Vinil Polepalli
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