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Histopathology whole-slide images (WSIs) are routinely acquired in clinical practice and contain rich tissue morphology but lack direct molecular architecture and functional programs defining pathological states, whereas RNA sequencing…

Computer Vision and Pattern Recognition · Computer Science 2026-05-13 Yaxuan Song , Jianan Fan , Tianyi Wang , Qiuyue Hu , Hang Chang , Heng Huang , Weidong Cai

Characterizing the differential excision of mRNA is critical for understanding the functional complexity of a cell or tissue, from normal developmental processes to disease pathogenesis. Most transcript reconstruction methods infer…

Quantitative Methods · Quantitative Biology 2022-11-15 Marjan Hosseini , Devin McConnell , Derek Aguiar

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…

MicroRNAs (miRNAs) are small non-coding RNAs that function as regulators of gene expression. In recent years, there has been a tremendous and growing interest among researchers to investigate the role of miRNAs in normal cellular as well as…

Applications · Statistics 2018-04-13 Noirrit Kiran Chandra , Richa Singh , Sourabh Bhattacharya

Single-Cell RNA sequencing (scRNA-seq) measurements have facilitated genome-scale transcriptomic profiling of individual cells, with the hope of deconvolving cellular dynamic changes in corresponding cell sub-populations to better…

Genomics · Quantitative Biology 2021-04-06 Seyednami Niyakan , Ehsan Hajiramezanali , Shahin Boluki , Siamak Zamani Dadaneh , Xiaoning Qian

Identification and quantification of condition-specific transcripts using RNA-Seq is vital in transcriptomics research. While initial efforts using mathematical or statistical modeling of read counts or per-base exonic signal have been…

Quantitative Methods · Quantitative Biology 2013-02-26 Tin Chi Nguyen , Nan Deng , Dongxiao Zhu

Single-cell RNA-sequencing technologies may provide valuable insights to the understanding of the composition of different cell types and their functions within a tissue. Recent technologies such as spatial transcriptomics, enable the…

Applications · Statistics 2023-05-16 Arhit Chakrabarti , Yang Ni , Bani K. Mallick

Next generation sequencing allows the identification of genes consisting of differentially expressed transcripts, a term which usually refers to changes in the overall expression level. A specific type of differential expression is…

Genomics · Quantitative Biology 2017-11-07 Panagiotis Papastamoulis , Magnus Rattray

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

In many biomedical research, multiple views of data (e.g., genomics, proteomics) are available, and a particular interest might be the detection of sample subgroups characterized by specific groups of variables. Biclustering methods are…

Methodology · Statistics 2021-11-12 W. Zhang , C. Wendt , R. Bowler , C. P. Hersh , S. E. Safo

Motivation: Modelling methods that find structure in data are necessary with the current large volumes of genomic data, and there have been various efforts to find subsets of genes exhibiting consistent patterns over subsets of treatments.…

Machine Learning · Computer Science 2016-09-15 Kerstin Bunte , Eemeli Leppäaho , Inka Saarinen , Samuel Kaski

There are currently plenty of programs available for mapping short sequences (reads) to a genome. Most of them, however, including such popular and actively developed programs as Bowtie, BWA, TopHat and many others, are based on…

Genomics · Quantitative Biology 2019-08-06 Igor Seledtsov , Jaroslav Efremov , Vladimir Molodtsov , Victor Solovyev

Single cell combinatorial indexing RNA sequencing (sci-RNA-seq) is a powerful method for recovering gene expression data from an exponentially scalable number of individual cells or nuclei. However, sci-RNA-seq is a complex protocol that…

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

Enzymes and proteins are live driven biochemicals, which has a dramatic impact over the environment, in which it is active. So, therefore, it is highly looked-for to build such a robust and highly accurate automatic and computational model…

Biomolecules · Quantitative Biology 2021-01-11 Zaheer Ullah Khan , Dechang Pi , Izhar Ahmed Khan , Asif Nawaz , Jamil Ahmad , Mushtaq Hussain

In line with the importance of RNA-seq, the bioinformatics community has produced numerous data analysis tools incorporating methods to correct sample-specific biases. However, few advanced simulation tools exist to enable benchmarking of…

Genomics · Quantitative Biology 2013-08-15 Botond Sipos , Greg Slodkowicz , Tim Massingham , Nick Goldman

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

Bayesian inference is a widely used technique for real-time characterization of quantum systems. It excels in experimental characterization in the low data regime, and when the measurements have degrees of freedom. A decisive factor for its…

Quantum Physics · Physics 2025-07-10 Alexandra Ramôa , Raffaele Santagati , Nathan Wiebe

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

Single-cell RNA sequencing (scRNA-seq) enables single-cell transcriptomic profiling, revealing cellular heterogeneity and rare populations. Recent deep learning models like Geneformer and Mouse-Geneformer perform well on tasks such as…

Genomics · Quantitative Biology 2025-07-11 Yuki Nishio , Takayoshi Yamashita , Keita Ito , Tsubasa Hirakawa , Hironobu Fujiyoshi