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Although bulk transcriptomic analyses have significantly contributed to an enhanced comprehension of multifaceted diseases, their exploration capacity is impeded by the heterogeneous compositions of biological samples. Indeed, by averaging…

Quantitative Methods · Quantitative Biology 2023-10-24 Bastien Chassagnol , Grégory Nuel , Etienne Becht

Foundation models for single-cell RNA sequencing (scRNA-seq) have shown promising capabilities in capturing gene expression patterns. However, current approaches face critical limitations: they ignore biological prior knowledge encoded in…

Machine Learning · Computer Science 2025-03-04 Mufan Qiu , Xinyu Hu , Fengwei Zhan , Sukwon Yun , Jie Peng , Ruichen Zhang , Bhavya Kailkhura , Jiekun Yang , Tianlong Chen

Single-cell transcriptomics techniques, such as scRNA-seq, attempt to characterize gene expression profiles in each cell of a heterogeneous sample individually. Due to growing amounts of data generated and the increasing complexity of the…

Genomics · Quantitative Biology 2023-05-02 Laura Puente-Santamaría , Luis del Peso

Motivation: Single-cell RNA sequencing (scRNA-seq) is a groundbreaking technology extensively utilized in biological research, facilitating the examination of gene expression at the individual cell level within a given tissue sample. While…

Machine Learning · Computer Science 2024-04-10 Shengze Dong , Zhuorui Cui , Ding Liu , Jinzhi Lei

RNA-seq allows detection and precise quantification of transcripts, provides comprehensive understanding of exon/intron boundaries, aids discovery of alternatively spliced isoforms and fusion transcripts along with measurement of…

Genomics · Quantitative Biology 2013-06-03 Prachi Jain , Neeraja M. Krishnan , Binay Panda

Background: Single-cell RNA sequencing (scRNA-seq) is a powerful profiling technique at the single-cell resolution. Appropriate analysis of scRNA-seq data can characterize molecular heterogeneity and shed light into the underlying cellular…

Applications · Statistics 2019-08-05 Siamak Zamani Dadaneh , Paul de Figueiredo , Sing-Hoi Sze , Mingyuan Zhou , Xiaoning Qian

We have developed a statistical method named IsoDOT to assess differential isoform expression (DIE) and differential isoform usage (DIU) using RNA-seq data. Here isoform usage refers to relative isoform expression given the total expression…

Single-cell RNA sequencing (scRNA-seq) technology provides high-throughput gene expression data to study the cellular heterogeneity and dynamics of complex organisms. Graph neural networks (GNNs) have been widely used for automatic cell…

Machine Learning · Computer Science 2023-12-19 Rui Yang , Wenrui Dai , Chenglin Li , Junni Zou , Dapeng Wu , Hongkai Xiong

The ability to measure the transcriptomes of single cells has only been feasible for a few years, and is becoming an extremely popular assay. While many types of analysis and questions can be answered using single cell RNA-sequencing, a…

Genomics · Quantitative Biology 2017-08-09 Valentine Svensson , Roser Vento-Tormo , Sarah A Teichmann

The amount of high-dimensional large-scale RNA sequencing data derived from multiple heterogeneous sources has increased exponentially in biological science. During data collection, significant technical noise or errors may occur. To…

Applications · Statistics 2025-06-24 Xiaolu Jiang , Wei Liu

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

Detecting differences in gene expression is an important part of single-cell RNA sequencing experiments, and many statistical methods have been developed for this aim. Most differential expression analyses focus on comparing expression…

Next-generation sequencing (NGS) technologies allow new methodologies for alternative splicing (AS) analysis. Current computational methods for AS from NGS data are mainly focused on predicting splice site junctions or de novo assembly of…

Genomics · Quantitative Biology 2012-08-15 Stefano Beretta , Paola Bonizzoni , Gianluca Della Vedova , Raffaella Rizzi

The RNA-sequencing (RNA-seq) is becoming increasingly popular for quantifying gene expression levels. Since the RNA-seq measurements are relative in nature, between-sample normalization of counts is an essential step in differential…

Methodology · Statistics 2016-10-14 Kefei Liu , Jieping Ye , Yang Yang , Li Shen , Hui Jiang

High throughput technologies have become the practice of choice for comparative studies in biomedical applications. Limited number of sample points due to sequencing cost or access to organisms of interest necessitates the development of…

Methodology · Statistics 2018-07-17 Ariana Broumand , Siamak Zamani Dadaneh

Despite significant advancements in human motion generation, current motion representations, typically formulated as discrete frame sequences, still face two critical limitations: (i) they fail to capture motion from a multi-scale…

Computer Vision and Pattern Recognition · Computer Science 2025-08-13 Zan Wang , Jingze Zhang , Yixin Chen , Baoxiong Jia , Wei Liang , Siyuan Huang

Single-cell RNA sequencing (scRNA-seq) is a relatively new technology that has stimulated enormous interest in statistics, data science, and computational biology due to the high dimensionality, complexity, and large scale associated with…

Machine Learning · Statistics 2023-10-25 Yuta Hozumi , Guo-Wei Wei

We consider the correction of errors from nucleotide sequences produced by next-generation targeted amplicon sequencing. The next-generation sequencing (NGS) platforms can provide a great deal of sequencing data thanks to their high…

Genomics · Quantitative Biology 2017-07-05 Byunghan Lee , Taesup Moon , Sungroh Yoon , Tsachy Weissman

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

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
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