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RNA sequencing (RNA-seq) has been rapidly adopted for the profiling of transcriptomes in many areas of biology, including studies into gene regulation, development and disease. Of particular interest is the discovery of differentially…

We perform differential expression analysis of high-throughput sequencing count data under a Bayesian nonparametric framework, removing sophisticated ad-hoc pre-processing steps commonly required in existing algorithms. We propose to use…

Applications · Statistics 2017-05-04 Siamak Zamani Dadaneh , Xiaoning Qian , Mingyuan Zhou

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

In the contrastive analysis (CA) setting, machine learning practitioners are specifically interested in discovering patterns that are enriched in a target dataset as compared to a background dataset generated from sources of variation…

Machine Learning · Computer Science 2022-02-23 Ethan Weinberger , Nicasia Beebe-Wang , Su-In Lee

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

In this work, we propose a novel probabilistic sequence model that excels at capturing high variability in time series data, both across sequences and within an individual sequence. Our method uses temporal latent variables to capture…

Machine Learning · Computer Science 2020-02-26 Ruizhi Deng , Yanshuai Cao , Bo Chang , Leonid Sigal , Greg Mori , Marcus A. Brubaker

The newly developed deep-sequencing technologies make it possible to acquire both quantitative and qualitative information regarding transcript biology. By measuring messenger RNA levels for all genes in a sample, RNA-seq provides an…

Genomics · Quantitative Biology 2014-12-05 Lerong Li , Momiao Xiong

Next-generation sequencing technologies now constitute a method of choice to measure gene expression. Data to analyze are read counts, commonly modeled using Negative Binomial distributions. A relevant issue associated with this…

Methodology · Statistics 2014-11-10 Elisabetta Bonafede , Franck Picard , Stéphane Robin , Cinzia Viroli

Sequencing technologies have revolutionised the field of molecular biology. We now have the ability to routinely capture the complete RNA profile in tissue samples. This wealth of data allows for comparative analyses of RNA levels at…

Methodology · Statistics 2024-07-01 Franziska Hoerbst , Gurpinder Singh Sidhu , Melissa Tomkins , Richard J. Morris

This work presents RNAdiffusion, a latent diffusion model for generating and optimizing discrete RNA sequences of variable lengths. RNA is a key intermediary between DNA and protein, exhibiting high sequence diversity and complex…

Machine Learning · Computer Science 2024-10-03 Kaixuan Huang , Yukang Yang , Kaidi Fu , Yanyi Chu , Le Cong , Mengdi Wang

High-throughput RNA sequencing (RNA-seq) has emerged as a revolutionary and powerful technology for expression profiling. Most proposed methods for detecting differentially expressed (DE) genes from RNA-seq are based on statistics that…

Genomics · Quantitative Biology 2014-11-18 Li Zhang , Xuejun Liu , Songcan Chen

High-throughput sequencing of RNA transcripts (RNA-seq) has become the method of choice for detection of differential expression (DE). Concurrent with the growing popularity of this technology there has been a significant research effort…

Single-cell RNA-seq data are challenging because of the sparseness of the read counts, the tiny expression of many relevant genes, and the variability in the efficiency of RNA extraction for different cells. We consider a simple…

Methodology · Statistics 2020-02-10 Silvia Giulia Galfre' , Francesco Morandin

Background: High-throughput techniques bring novel tools but also statistical challenges to genomic research. Identifying genes with differential expression between different species is an effective way to discover evolutionarily conserved…

Methodology · Statistics 2018-10-05 Yan Zhou , Jiadi Zhu , Tiejun Tong , Junhui Wang , Bingqing Lin , Jun Zhang

Single-cell RNA sequencing (scRNA-seq) data is a potent tool for comprehending the "language of life" and can provide insights into various downstream biomedical tasks. Large-scale language models (LLMs) are starting to be used for cell…

Computational Engineering, Finance, and Science · Computer Science 2023-06-08 Suyuan Zhao , Jiahuan Zhang , Zaiqing Nie

Latent variable models such as the Variational Auto-Encoder (VAE) have become a go-to tool for analyzing biological data, especially in the field of single-cell genomics. One remaining challenge is the interpretability of latent variables…

Genomics · Quantitative Biology 2023-02-20 Romain Lopez , Nataša Tagasovska , Stephen Ra , Kyunghyn Cho , Jonathan K. Pritchard , Aviv Regev

Large language models (LLMs) have shown strong ability in generating rich representations across domains such as natural language processing and generation, computer vision, and multimodal learning. However, their application in biomedical…

Genomics · Quantitative Biology 2025-09-30 Luxuan Zhang , Douglas Jiang , Qinglong Wang , Haoqi Sun , Feng Tian

Single-cell RNA-seq datasets are growing in size and complexity, enabling the study of cellular composition changes in various biological/clinical contexts. Scalable dimensionality reduction techniques are in need to disentangle biological…

Contrastive explanations clarify why an event occurred in contrast to another. They are more inherently intuitive to humans to both produce and comprehend. We propose a methodology to produce contrastive explanations for classification…

Computation and Language · Computer Science 2021-09-15 Alon Jacovi , Swabha Swayamdipta , Shauli Ravfogel , Yanai Elazar , Yejin Choi , Yoav Goldberg

In neutrino physics, analyses often depend on large simulated datasets, making it essential for models to generalise effectively to real-world detector data. Contrastive learning, a well-established technique in deep learning, offers a…

High Energy Physics - Experiment · Physics 2025-05-23 Alex Wilkinson , Radi Radev , Saul Alonso-Monsalve