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We propose a novel method, scTree, for single-cell Tree Variational Autoencoders, extending a hierarchical clustering approach to single-cell RNA sequencing data. scTree corrects for batch effects while simultaneously learning a…

Machine Learning · Computer Science 2024-07-11 Moritz Vandenhirtz , Florian Barkmann , Laura Manduchi , Julia E. Vogt , Valentina Boeva

Single-cell RNA sequencing data have complex features such as dropout events, over-dispersion, and high-magnitude outliers, resulting in complicated probability distributions of mRNA abundances that are statistically characterized in terms…

Molecular Networks · Quantitative Biology 2019-11-04 Chen Jia

Single-cell RNA sequencing (scRNA-seq) has the potential to provide powerful, high-resolution signatures to inform disease prognosis and precision medicine. This paper takes an important first step towards this goal by developing an…

Quantitative Methods · Quantitative Biology 2021-10-15 Bryan He , Matthew Thomson , Meena Subramaniam , Richard Perez , Chun Jimmie Ye , James Zou

The advancement of single-cell RNA-sequencing (scRNA-seq) technologies allow us to study the individual level cell-type-specific gene expression networks by direct inference of genes' conditional independence structures. scRNA-seq data…

Methodology · Statistics 2024-09-20 Changhao Ge , Hongzhe Li

Human microbiome studies based on genetic sequencing techniques produce compositional longitudinal data of the relative abundances of microbial taxa over time, allowing to understand, through mixed-effects modeling, how microbial…

Methodology · Statistics 2025-12-23 John Barrera , Cristian Meza , Ana Arribas-Gil

High-throughput sequencing is now regularly used for studies of the transcriptome (RNA-seq), particularly for comparisons among experimental conditions. For the time being, a limited number of biological replicates are typically considered…

Applications · Statistics 2013-06-18 Andrea Rau , Guillemette Marot , Florence Jaffrézic

The identification of disease-gene associations is instrumental in understanding the mechanisms of diseases and developing novel treatments. Besides identifying genes from RNA-Seq datasets, it is often necessary to identify gene clusters…

Genomics · Quantitative Biology 2025-11-14 Jake R. Patock , Rinki Ratnapriya , Arko Barman

Modeling biological sequences such as DNA, RNA, and proteins is crucial for understanding complex processes like gene regulation and protein synthesis. However, most current models either focus on a single type or treat multiple types of…

Genomics · Quantitative Biology 2024-10-16 Weixi Xiang , Xueting Han , Xiujuan Chai , Jing Bai

Urothelial cell carcinoma (UCC) is the ninth most common cancer that accounts for 4.7% of all the new cancer cases globally. UCC development and progression are due to complex and stochastic genetic programmes. To study the cascades of…

Modern high-throughput single-cell immune profiling technologies, such as flow and mass cytometry and single-cell RNA sequencing can readily measure the expression of a large number of protein or gene features across the millions of cells…

Quantitative Methods · Quantitative Biology 2022-07-05 Vishal Athreya Baskaran , Jolene Ranek , Siyuan Shan , Natalie Stanley , Junier B. Oliva

The number of studies dealing with RNA-Seq data analysis has experienced a fast increase in the past years making this type of gene expression a strong competitor to the DNA microarrays. This paper proposes a Bayesian model to detect down…

Applications · Statistics 2019-11-05 Vinícius D. Mayrink , Flávio B. Gonçalves

Single-cell data analysis seeks to characterize cellular heterogeneity based on high-dimensional gene expression profiles. Conventional approaches represent each cell as a vector in Euclidean space, which limits their ability to capture…

Machine Learning · Computer Science 2025-11-18 Xiang Xiang Wang , Sean Cottrell , Guo-Wei Wei

Accurately inferring the root causes of disease from sequencing data can improve the discovery of novel therapeutic targets. However, existing root causal inference algorithms require perfectly measured continuous random variables. Single…

Genomics · Quantitative Biology 2023-07-12 Eric V. Strobl

Xenium, a new spatial transcriptomics platform, enables subcellular-resolution profiling of complex tumor tissues. Despite the rich morphological information in histology images, extracting robust cell-level features and integrating them…

Computer Vision and Pattern Recognition · Computer Science 2025-08-15 Paul H. Acosta , Pingjun Chen , Simon P. Castillo , Maria Esther Salvatierra , Yinyin Yuan , Xiaoxi Pan

Single-cell RNA sequencing (scRNA-seq) data simulation is limited by classical methods that rely on linear correlations, failing to capture the intrinsic, nonlinear dependencies. No existing simulator jointly models gene-gene and cell-cell…

Quantitative Methods · Quantitative Biology 2025-12-22 Selim Romero , Vignesh S. Kumar , Robert S. Chapkin , James J. Cai

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

Functional MRI (fMRI) and single-cell transcriptomics are pivotal in Alzheimer's disease (AD) research, each providing unique insights into neural function and molecular mechanisms. However, integrating these complementary modalities…

Quantitative Methods · Quantitative Biology 2025-02-06 Yu-An Huang , Yao Hu , Yue-Chao Li , Xiyue Cao , Xinyuan Li , Kay Chen Tan , Zhu-Hong You , Zhi-An Huang

In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease-associated genetic risk factors through so-called expression…

Single-cell RNA sequencing (scRNA-seq) and spatially-resolved imaging/sequencing technologies have revolutionized biomedical research. On one hand, scRNA-seq provides information about a large portion of the transcriptome for individual…

Computational Engineering, Finance, and Science · Computer Science 2026-03-24 Arezou Rahimi , Luis A. Vale-Silva , Maria Faelth Savitski , Jovan Tanevski , Julio Saez-Rodriguez

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
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