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The regulAS software package is a bioinformatics tool designed to support computational biology researchers in investigating regulatory mechanisms of splicing alterations through integrative analysis of large-scale RNA-Seq data from cancer…

Genomics · Quantitative Biology 2023-07-26 Sofya Lipnitskaya

Cells with the same genome can exist in different phenotypes. and can change between distinct phenotypes when subject to specific stimuli and microenvironments. Some examples include cell differentiation during development, reprogramming…

Quantitative Methods · Quantitative Biology 2022-09-28 Jianhua Xing

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Transcription of genes is the focus of most forms of regulation of gene expression. Even though careful biochemical experimentation has revealed the molecular mechanisms of transcription initiation for a number of different promoters in…

Molecular Networks · Quantitative Biology 2018-10-17 Sandeep Choubey , Jane Kondev , Alvaro Sanchez

Single-cell gene expression data provide invaluable resources for systematic characterization of cellular hierarchy in multi-cellular organisms. However, cell lineage reconstruction is still often associated with significant uncertainty due…

Quantitative Methods · Quantitative Biology 2016-01-13 Gregory Giecold , Eugenio Marco , Lorenzo Trippa , Guo-Cheng Yuan

Single-cell RNA sequencing (scRNA-seq) provides high-dimensional profiles of cellular states, enabling data-driven modeling of cellular dynamics over time. In practice, time-resolved scRNA-seq is collected at only a few discrete time points…

Machine Learning · Computer Science 2026-05-22 Siyu Pu , Qingqing Long , Xiaohan Huang , Haotian Chen , Jiajia Wang , Meng Xiao , Xiao Luo , Hengshu Zhu , Yuanchun Zhou , Xuezhi Wang

Cancer is a number of related yet highly heterogeneous diseases. Correct identification of cancer subtypes is critical for clinical decisions. The advance in sequencing technologies has made it possible to study cancer based on abundant…

Applications · Statistics 2018-11-27 Xiaochun Chen , Honggang Wang , Donghui Yan

Single-cell sequencing technologies reveal cellular heterogeneity at high resolution, advancing our understanding of biological complexity. As datasets start to scale to tens of millions of cells, computational workflows face substantial…

Single-cell RNA sequencing (scRNA-seq) data exhibit strong and reproducible statistical structure. This has motivated the development of large-scale foundation models, such as TranscriptFormer, that use transformer-based architectures to…

Genomics · Quantitative Biology 2026-02-19 Huan Souza , Pankaj Mehta

Machine learning is bringing a paradigm shift to healthcare by changing the process of disease diagnosis and prognosis in clinics and hospitals. This development equips doctors and medical staff with tools to evaluate their hypotheses and…

Motivation: With the development of droplet based systems, massive single cell transcriptome data has become available, which enables analysis of cellular and molecular processes at single cell resolution and is instrumental to…

Machine Learning · Computer Science 2018-12-27 Tiehang Duan , José P. Pinto , Xiaohui Xie

Live-cell imaging (LCI) technology enables the detailed spatio-temporal characterization of living cells at the single-cell level, which is critical for advancing research in the life sciences, from biomedical applications to bioprocessing.…

Computer Vision and Pattern Recognition · Computer Science 2025-10-09 Johannes Seiffarth , Keitaro Kasahara , Michelle Bund , Benita Lückel , Richard D. Paul , Matthias Pesch , Lennart Witting , Michael Bott , Dietrich Kohlheyer , Katharina Nöh

Automated cell nucleus segmentation and classification are required to assist pathologists in their decision making. The Colon Nuclei Identification and Counting Challenge 2022 (CoNIC Challenge 2022) supports the development and…

Image and Video Processing · Electrical Eng. & Systems 2022-03-01 Moritz Böhland , Oliver Neumann , Marcel P. Schilling , Markus Reischl , Ralf Mikut , Katharina Löffler , Tim Scherr

In the past decades, advances in microscopy have made it possible to study the dynamics of individual biomolecules in vitro and resolve intramolecular kinetics that would otherwise be hidden in ensemble averages. More recently,…

Quantitative Methods · Quantitative Biology 2018-09-11 Johan Elf , Irmeli Barkefors

Recent advances in high-resolution sequencing have paved the way for population-scale analysis in single-cell RNA-sequencing (scRNA-seq) data. scRNA-seq data, in particular, have proven to be extremely powerful in profiling a variety of…

Methodology · Statistics 2025-10-30 Hanxuan Ye , Zachary Qian , Hongzhe Li

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

In a previous paper [CSIAM Trans. Appl. Math. 2 (2021), 1-55], the authors proposed a theoretical framework for the analysis of RNA velocity, which is a promising concept in scRNA-seq data analysis to reveal the cell state-transition…

Numerical Analysis · Mathematics 2025-02-25 Tiejun Li , Yizhuo Wang , Guoguo Yang , Peijie Zhou

Single-cell RNA sequencing (scRNA-seq) enables single-cell transcriptomic profiling, revealing cellular heterogeneity and rare populations. Recent deep learning models like Geneformer and Mouse-Geneformer perform well on tasks such as…

Genomics · Quantitative Biology 2025-07-11 Yuki Nishio , Takayoshi Yamashita , Keita Ito , Tsubasa Hirakawa , Hironobu Fujiyoshi

As camera pixel arrays have grown larger and faster, and optical microscopy techniques ever more refined, there has been an explosion in the quantity of data acquired during routine light microcopy. At the single-molecule level, analysis…

Biomolecules · Quantitative Biology 2021-07-07 Jack W Shepherd , Ed J Higgins , Adam J M Wollman , Mark C Leake

Extrachromosomal DNA (ecDNA) represents one of the most pressing challenges in cancer biology: circular DNA structures that amplify oncogenes, evade targeted therapies, and drive tumor evolution in ~30% of aggressive cancers. Despite its…

Genomics · Quantitative Biology 2026-04-09 Bryan Cheng , Jasper Zhang