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High throughput sequencing of RNA (RNA-Seq) can provide us with millions of short fragments of RNA transcripts from a sample. How to better recover the original RNA transcripts from those fragments (RNA-Seq assembly) is still a difficult…

Genomics · Quantitative Biology 2019-02-15 Shunfu Mao , Yihan Jiang , Edwin Basil Mathew , Sreeram Kannan

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

RNA-Seq technology offers new high-throughput ways for transcript identification and quantification based on short reads, and has recently attracted great interest. The problem is usually modeled by a weighted splicing graph whose nodes…

Quantitative Methods · Quantitative Biology 2013-08-02 Alexandru I. Tomescu , Anna Kuosmanen , Romeo Rizzi , Veli Mäkinen

Single-cell RNA sequencing allows the quantification of gene expression at the individual cell level, enabling the study of cellular heterogeneity and gene expression dynamics. Dimensionality reduction is a common preprocessing step…

Computation · Statistics 2025-10-14 Cristian Castiglione , Alexandre Segers , Lieven Clement , Davide Risso

The use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

Cell recognition is a fundamental task in digital histopathology image analysis. Point-based cell recognition (PCR) methods normally require a vast number of annotations, which is extremely costly, time-consuming and labor-intensive.…

Computer Vision and Pattern Recognition · Computer Science 2023-06-16 Zhongyi Shui , Yizhi Zhao , Sunyi Zheng , Yunlong Zhang , Honglin Li , Shichuan Zhang , Xiaoxuan Yu , Chenglu Zhu , Lin 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

Motivation: Assigning RNA-seq reads to their transcript of origin is a fundamental task in transcript expression estimation. Where ambiguities in assignments exist due to transcripts sharing sequence, e.g. alternative isoforms or alleles,…

Quantitative Methods · Quantitative Biology 2015-07-01 James Hensman , Panagiotis Papastamoulis , Peter Glaus , Antti Honkela , Magnus Rattray

Clustering genotypes based upon their phenotypic characteristics is used to obtain diverse sets of parents that are useful in their breeding programs. The Hierarchical Clustering (HC) algorithm is the current standard in clustering of…

Machine Learning · Computer Science 2020-09-22 Aditya A. Shastri , Kapil Ahuja , Milind B. Ratnaparkhe , Yann Busnel

Identifying differentially expressed genes from RNA sequencing data remains a challenging task because of the considerable uncertainties in parameter estimation and the small sample sizes in typical applications. Here we introduce Bayesian…

Applications · Statistics 2014-11-11 Matthias Katzfuss , Andreas Neudecker , Simon Anders , Julien Gagneur

Spatial Transcriptomics enables mapping of gene expression within its native tissue context, but current platforms measure only a limited set of genes due to experimental constraints and excessive costs. To overcome this, computational…

Genomics · Quantitative Biology 2025-11-20 Amit Kumar , Maninder Kaur , Raghvendra Mall , Sukrit Gupta

Synthetic data, an appealing alternative to extensive expert-annotated data for medical image segmentation, consistently fails to improve segmentation performance despite its visual realism. The reason being that synthetic and real medical…

Computer Vision and Pattern Recognition · Computer Science 2026-02-04 OFM Riaz Rahman Aranya , Kevin Desai

Single-cell RNA sequencing (scRNA-seq) is essential for unraveling cellular heterogeneity and diversity, offering invaluable insights for bioinformatics advancements. Despite its potential, traditional clustering methods in scRNA-seq data…

Machine Learning · Computer Science 2025-10-01 Ping Xu , Zhiyuan Ning , Meng Xiao , Guihai Feng , Xin Li , Yuanchun Zhou , Pengfei Wang

We introduce hmmSeq, a model-based hierarchical Bayesian technique for detecting differentially expressed genes from RNA-seq data. Our novel hmmSeq methodology uses hidden Markov models to account for potential co-expression of neighboring…

Applications · Statistics 2015-09-17 Shiqi Cui , Subharup Guha , Marco A. R. Ferreira , Allison N. Tegge

As a powerful tool for characterizing cellular subpopulations and cellular heterogeneity, single cell RNA sequencing (scRNA-seq) technology offers advantages of high throughput and multidimensional analysis. However, the process of data…

Machine Learning · Computer Science 2024-11-19 Zhuorui Cui , Shengze Dong , Ding Liu

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

According to the National Cancer Institute, there were 9.5 million cancer-related deaths in 2018. A challenge in improving treatment is resistance in genetically unstable cells. The purpose of this study is to evaluate unsupervised machine…

Genomics · Quantitative Biology 2021-08-12 Anastasia Dunca , Frederick R. Adler

Single-cell RNA-seq (scRNA-seq) enables atlas-scale profiling of complex tissues, revealing rare lineages and transient states. Yet, assigning biologically valid cell identities remains a bottleneck because markers are tissue- and…

We present the use of single-cell entropy (scEntropy) to measure the order of the cellular transcriptome profile from single-cell RNA-seq data, which leads to a method of unsupervised cell type classification through scEntropy followed by…

Quantitative Methods · Quantitative Biology 2020-02-18 Jingxin Liu , You Song , Jinzhi Lei

Semi-Supervised Learning (SSL) is implemented when algorithms are trained on both labeled and unlabeled data. This is a very common application of ML as it is unrealistic to obtain a fully labeled dataset. Researchers have tackled three…

Machine Learning · Computer Science 2023-08-16 Jason Lu , Michael Ma , Huaze Xu , Zixi Xu
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