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Predicting phenotypes from gene expression data is a crucial task in biomedical research, enabling insights into disease mechanisms, drug responses, and personalized medicine. Traditional machine learning and deep learning rely on…

Machine Learning · Computer Science 2025-09-18 Kevin Dradjat , Massinissa Hamidi , Pierre Bartet , Blaise Hanczar

Background and Objective: The massive parallel sequencing technology facilitates new discoveries in terms of transcript differential analysis; however, all the new findings must be validated, since the diversity of transcript expression may…

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

We introduce PolyLinkR, an R package for gene set enrichment analysis that implements a novel null-model that accounts for linkage disequilibrium between genes belonging to the same gene set - a potential cause of false positives that is…

Genomics · Quantitative Biology 2020-04-08 Raymond Tobler , Angad Johar , Christian Huber , Yassine Souilmi

A popular approach for comparing gene expression levels between (replicated) conditions of RNA sequencing data relies on counting reads that map to features of interest. Within such count-based methods, many flexible and advanced…

Quantitative Methods · Quantitative Biology 2014-03-17 Xiaobei Zhou , Helen Lindsay , Mark D. Robinson

In molecular biology, advances in high-throughput technologies have made it possible to study complex multivariate phenotypes and their simultaneous associations with high-dimensional genomic and other omics data, a problem that can be…

Methodology · Statistics 2021-12-02 Zhi Zhao , Marco Banterle , Leonardo Bottolo , Sylvia Richardson , Alex Lewin , Manuela Zucknick

The R package CVEK introduces a suite of flexible machine learning models and robust hypothesis tests for learning the joint nonlinear effects of multiple covariates in limited samples. It implements the Cross-validated Ensemble of Kernels…

Computation · Statistics 2020-12-22 Wenying Deng , Jeremiah Zhe Liu , Erin Lake , Brent A. Coull

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…

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

Genome-scale screening experiments in cancer produce long lists of candidate genes that require extensive interpretation for biological insight and prioritization for follow-up studies. Interrogation of gene lists frequently represents a…

RNA-Seq and gene expression microarrays provide comprehensive profiles of gene activity, but lack of reproducibility has hindered their application. A key challenge in the data analysis is the normalization of gene expression levels, which…

Populations and Evolution · Quantitative Biology 2017-03-10 Carlos P. Roca , Susana I. L. Gomes , Mónica J. B. Amorim , Janeck J. Scott-Fordsmand

The R package (R Core Team (2016)) genMOSS is specifically designed for the Bayesian analysis of genome-wide association study data. The package implements the mode oriented stochastic search (MOSS) procedure as well as a simple moving…

Computation · Statistics 2016-11-24 Matthew Friedlander , Adrian Dobra , Helene Massam , Laurent Briollais

The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be…

Genomics · Quantitative Biology 2015-08-03 Gael P. Alamancos , Eneritz Agirre , Eduardo Eyras

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…

Late diagnosis and high costs are key factors that negatively impact the care of cancer patients worldwide. Although the availability of biological markers for the diagnosis of cancer type is increasing, costs and reliability of tests…

Machine Learning · Computer Science 2019-08-20 Sterling Ramroach , Melford John , Ajay Joshi

Background: The availability of high throughput methods for measurement of mRNA concentrations makes the reliability of conclusions drawn from the data and global quality control of samples and hybridization important issues. We address…

Quantitative Methods · Quantitative Biology 2007-05-23 S. Bilke , T. Breslin , M. Sigvardsson

Single-cell RNA sequencing (scRNA-seq) has transformed our ability to explore biological systems. Nevertheless, proficient expertise is essential for handling and interpreting the data. In this paper, we present scX, an R package built on…

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

CLIP-seq methods are valuable techniques to experimentally determine transcriptome-wide binding sites of RNA-binding proteins. Despite the constant improvement of such techniques (e.g. eCLIP), the results are affected by various types of…

Biomolecules · Quantitative Biology 2024-12-31 Gianluca Corrado , Michael Uhl , Rolf Backofen , Andrea Passerini , Fabrizio Costa

Motivation: Proteomic mass spectrometry analysis is becoming routine in clinical diagnostics, for example to monitor cancer biomarkers using blood samples. However, differential proteomics and identification of peaks relevant for class…

Genomics · Quantitative Biology 2015-10-06 Sebastian Gibb , Korbinian Strimmer