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Deconvolution of cell mixtures in "bulk" transcriptomic samples from homogenate human tissue is important for understanding the pathologies of diseases. However, several experimental and computational challenges remain in developing and…

Other Quantitative Biology · Quantitative Biology 2023-05-12 Sean K. Maden , Sang Ho Kwon , Louise A. Huuki-Myers , Leonardo Collado-Torres , Stephanie C. Hicks , Kristen R. Maynard

Identifying concentrations of components from an observed mixture is a fundamental problem in signal processing. It has diverse applications in fields ranging from hyperspectral imaging to denoising biomedical sensors. This paper focuses on…

Computational Engineering, Finance, and Science · Computer Science 2016-11-17 Shahin Mohammadi , Neta Zuckerman , Andrea Goldsmith , Ananth Grama

Single-cell RNA-sequencing (scRNA-seq) stands as a powerful tool for deciphering cellular heterogeneity and exploring gene expression profiles at high resolution. However, its high cost renders it impractical for extensive sample cohorts…

In recent years, the advances in single-cell RNA-seq techniques have enabled us to perform large-scale transcriptomic profiling at single-cell resolution in a high-throughput manner. Unsupervised learning such as data clustering has become…

Genomics · Quantitative Biology 2020-01-07 Shixiong Zhang , Xiangtao Li , Qiuzhen Lin , Ka-Chun Wong

Although bulk transcriptomic analyses have greatly contributed to a better understanding of complex diseases, their sensibility is hampered by the highly heterogeneous cellular compositions of biological samples. To address this limitation,…

Quantitative Methods · Quantitative Biology 2023-09-19 Bastien Chassagnol , Grégory Nuel , Etienne Becht

Motivation: As cancer researchers have come to appreciate the importance of intratumor heterogeneity, much attention has focused on the challenges of accurately profiling heterogeneity in individual patients. Experimental technologies for…

Genomics · Quantitative Biology 2018-02-07 Theodore Roman , Lu Xie , Russell Schwartz

Single-cell technologies have revolutionized biomedical research by enabling scalable measurement of the genome, transcriptome, and proteome of multiple systems at single-cell resolution. Now widely applied to cancer models, these assays…

Genomics · Quantitative Biology 2020-05-05 Allen W Zhang , Kieran R Campbell

Gene expression profiling technologies have been used in various applications such as cancer biology. The development of gene expression profiling has expanded the scope of target discovery in transcriptomic studies, and each technology…

Genomics · Quantitative Biology 2023-01-10 Hyeongseon Jeon , Juan Xie , Yeseul Jeon , Kyeong Joo Jung , Arkobrato Gupta , Won Chang , Dongjun Chung

Alternative splicing is crucial in gene regulation, with significant implications in clinical settings and biotechnology. This review article compiles bioinformatics RNA-seq tools for investigating differential splicing; offering a detailed…

Genomics · Quantitative Biology 2024-09-10 Ben J Draper , Mark J Dunning , David C James

Advances in single-cell and spatial transcriptomic technologies have transformed tumor ecosystem profiling at cellular resolution. However, large scale studies on patient cohorts continue to rely on bulk transcriptomic data, where variation…

Machine Learning · Computer Science 2026-01-28 Zhiwei Zheng , Kevin Bryson

Rapid advancements in high-throughput single-cell RNA-seq (scRNA-seq) technologies and experimental protocols have led to the generation of vast amounts of genomic data that populates several online databases and repositories. Here, we…

Genomics · Quantitative Biology 2024-04-17 Mahnoor N. Gondal , Saad Ur Rehman Shah , Arul M. Chinnaiyan , Marcin Cieslik

The development of single-cell and spatial transcriptomics has revolutionized our capacity to investigate cellular properties, functions, and interactions in both cellular and spatial contexts. However, the analysis of single-cell and…

Genomics · Quantitative Biology 2024-12-09 Shuang Ge , Shuqing Sun , Huan Xu , Qiang Cheng , Zhixiang Ren

Deciphering cell type heterogeneity is crucial for systematically understanding tissue homeostasis and its dysregulation in diseases. Computational deconvolution is an efficient approach estimating cell type abundances from a variety of…

Other Quantitative Biology · Quantitative Biology 2023-09-06 Lana X. Garmire , Yijun Li , Qianhui Huang , Chuan Xu , Sarah Teichmann , Naftali Kaminski , Matteo Pellegrini , Quan Nguyen , Andrew E. Teschendorff

RNA-sequencing (RNA-seq) has become an exemplar technology in modern biology and clinical applications over the past decade. It has gained immense popularity in the recent years driven by continuous efforts of the bioinformatics community…

Bulk tissue RNA sequencing of heterogeneous samples provides averaged gene expression profiles, obscuring cell type-specific dynamics. To address this, we present a probabilistic hierarchical Bayesian model that deconvolves bulk RNA-seq…

Machine Learning · Computer Science 2025-12-15 Crystal Su , Kuai Yu , Mingyuan Shao , Daniel Bauer

Many modern biological assays, including RNA sequencing, yield integer-valued counts that reflect the number of molecules detected. These measurements are often not at the desired resolution: while the unit of interest is typically a single…

Machine Learning · Computer Science 2026-03-06 Nic Fishman , Gokul Gowri , Tanush Kumar , Jiaqi Lu , Valentin de Bortoli , Jonathan S. Gootenberg , Omar Abudayyeh

Background: Since the invention of next-generation RNA sequencing (RNA-seq) technologies, they have become a powerful tool to study the presence and quantity of RNA molecules in biological samples and have revolutionized transcriptomic…

Genomics · Quantitative Biology 2021-12-01 Wei Vivian Li , Jingyi Jessica Li

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…

The cell cycle is one of the most fundamental biological processes important for understanding normal physiology and various pathologies such as cancer. Single cell RNA sequencing technologies give an opportunity to analyse the cell cycle…

Quantitative Methods · Quantitative Biology 2022-08-11 Alexander Chervov , Andrei Zinovyev

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu
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