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Vinga, S.

Publications and source records attributed to Vinga, S..

11 recordsLinked to original sources

Regularized logistic regression-based gene selection for functional analysis of heterogeneous scRNA-seq macrophage populations in muscle aging and regeneration.

Background: Single-cell RNA sequencing enables the characterization of heterogeneous cellular responses across experimental conditions. However, feature-selection methods often prioritize genes associated with global condition differences while overlooking subgroup-specific transcriptional structure. This limitation is particularly relevant in complex tissues, where distinct cell states may contribute differently to disease, aging, or regeneration. Regularized logistic regression provides an interpretable framework for sparse gene selection, but standard penalties do not explicitly account for differences in gene-gene correlation patterns across annotated subgroups. Results: We introduce DisTwiner, a subgroup-aware extension of the twiner correlation-based regularization framework for binary classification problems with multiple annotated groups. DisTwiner computes pairwise angular scores between feature-correlation profiles across subgroup labels and incorporates the resulting feature-specific weights into an Elastic Net-regularized logistic regression model. We evaluated DisTwiner using simulated data and a single-cell RNA-seq dataset of macrophage populations isolated from young and aged regenerating murine skeletal muscle. In simulated data, alternative aggregation and transformation strategies showed comparable classification performance, with minimum-based exponential weighting producing the greatest dispersion of feature penalties. In the macrophage dataset, DisTwiner achieved classification performance comparable to standard Elastic Net logistic regression and higher than Random Forest under the evaluated setting. Although predictive accuracy was similar to Elastic Net, DisTwiner selected genes with more heterogeneous fold-change and correlation patterns across macrophage subpopulations. Downstream enrichment analyses showed that DisTwiner-selected features captured biologically relevant aging-associated pathways, including interferon-response signatures in specific macrophage populations, and could serve as an additional filtering layer after differential expression analysis. Conclusions: DisTwiner extends correlation-based regularization to binary classification settings with multiple annotated subgroups, enabling feature selection that accounts for subgroup-specific correlation structure. Applied to single-cell macrophage data, the method preserved competitive classification performance while prioritizing genes with cell-population-dependent expression patterns, supporting its use for interpretable subgroup-aware feature selection in high-dimensional omics data.

bioinformatics↗

Uncovering Latent Structure in Gliomas Using Multi-Omics Factor Analysis

BackgroundGliomas are the most common malignant brain tumors in adults, characterized by a poor prognosis. Although the current World Health Organization (WHO) classification provides clear guidelines for classifying oligodendroglioma, astrocytoma, and glioblastoma patients, significant heterogeneity persists within each class, limiting the effectiveness of current treatment strategies. With the increase of large-scale multi-omics datasets due to advancements in sequencing technologies, and online databases that provide them, such as The Cancer Genome Atlas (TCGA), it is now possible to investigate these tumors at multiple molecular levels. MethodsIn this work, we apply integrative multi-omics analysis to explore the interplay between genomic (mutations), epigenomic (DNA methylation), and transcriptomic (mRNA and miRNA) layers. Our approach relies on Multi-Omics Factor Analysis (MOFA), a Bayesian latent factor analysis model designed to capture sources of variation across different omics types. ResultsOur results highlight distinct molecular profiles across the three glioma types and identify potential relationships between methylation and genetic expression. In particular, we uncover novel candidate biomarkers with prognostic value, as well as a transcriptional profile associated with neural system development. ConclusionsThese findings may contribute to more personalized therapeutic strategies, potentially enhancing treatment effectiveness and improving survival outcomes for this disease.

bioinformatics↗

Synthetic augmentation of cancer cell line multi-omic datasets using unsupervised deep learning

Multi-omic characterization and integration remains a challenge due to data complexity and sparsity. Addressing this, our study introduces an unsupervised deep learning model, MOVE (Multi-Omic Variational Encoder), specifically designed to integrate and augment the Cancer Dependency Map (DepMap). Harnessing orthogonal multi-omic information, this model successfully generates molecular and phenotypic profiles, resulting in an increase of 32.7% in the number of multi-omic profiles and thereby generating a complete DepMap for 1,523 cancer cell lines. The synthetically enhanced data increases statistical power, uncovering less studied mechanisms associated with drug resistance, and refines the identification of genetic associations and clustering of cancer cell lines. By applying SHAP for model interpretation, MOVE reveals multi-omic features essential for cell clustering and biomarker identification related to drug and gene dependencies. This understanding is crucial for the development of much-needed, effective strategies in prioritizing cancer targets.

systems biology↗

Updating TCGA glioma classification through integration of molecular profiling data following the 2016 and 2021 WHO guidelines

The understanding of glioma disease has been evolving drastically with dedicated research into the genetic and molecular profiling of glioma tumour tissue. Molecular biomarkers have gained progressive and substantial importance in providing diagnostic information, leading to groundbreaking changes in the tumour classification system, criteria and taxonomy standardised by the 2016 and 2021 editions of the World Health Organization Classification of Tumours of the Central Nervous Systems guidelines (WHO-2016 and WHO-2021, respectively). Some of the insights into glioma disease derived from extensive research on open-source multi-omics databases, such as the Cancer Genome Atlas (TCGA). However, given the substantial changes in glioma classification, retrospective databases may harbour outdated diagnostic annotations, suboptimal for further research. Here we propose two methods for updating the tumour classification of TCGA glioma samples in accordance with WHO-2016 and WHO-2021 guidelines through the integration of curated molecular profiling information. Our methods allowed for the diagnostic update of 98% and 87% of evaluated TCGA glioma cases according to WHO-2016 and -2021, respectively, and highlighted changes in patient-specific diagnosis across both guidelines editions. Our reclassification pipelines are provided in software R, facilitating direct reproduction or tailoring upon new releases of WHO guidelines.

bioinformatics↗

Bayesian modelling to assess differential expression from single-cell data

Disease profiling, treatment development, and the identification of new cell populations are some of the most relevant applications relying on differentially expressed genes (DEG) analysis. In this context, three leading technologies emerged; namely, DNA microarrays, bulk RNA sequencing (RNA-seq), and single-cell RNA sequencing (scRNA-seq), the main focus of this work. Although scRNA-seq tends to offer more accurate data, it is still limited by many confounding factors. We introduce two novel approaches to assess DEG: extended Bayesian zero-inflated negative binomial factorization (ext-ZINBayes) and single-cell differential analysis (SIENA). In addition, we benchmark the proposed methods with known DEG analysis tools for single-cell and bulk RNA data, using two real public datasets. One contains house mouse cells of two different types, while the other gathers human peripheral blood mononuclear cells divided into four types. The results show that the two procedures can be very competitive with existing methods (scVI, SCDE, MAST, and DEseq) in identifying relevant putative biomarkers. In terms of scalability and correctness, SIENA stands out from ext-ZINBayes and some of the existing methods. As single-cell datasets become increasingly larger, SIENA may emerge as a powerful tool to discover functional differences between two conditions. Both methods are publicly available (https://github.com/JoanaGodinho/SIENA, https://github.com/JoanaGodinho/ext-ZINBayes).

bioinformatics↗

Benchmarking of alignment-free sequence comparison methods

Alignment-free (AF) sequence comparison is attracting persistent interest driven by data-intensive applications. Hence, many AF procedures have been proposed in recent years, but a lack of a clearly defined benchmarking consensus hampers their performance assessment. Here, we present a community resource (http://afproject.org) to establish standards for comparing alignment-free approaches across different areas of sequence-based research. We characterize 74 AF methods available in 24 software tools for five research applications, namely, protein sequence classification, gene tree inference, regulatory element detection, genome-based phylogenetic inference and reconstruction of species trees under horizontal gene transfer and recombination events. The interactive web service allows researchers to explore the performance of alignment-free tools relevant to their data types and analytical goals. It also allows method developers to assess their own algorithms and compare them with current state-of-the-art tools, accelerating the development of new, more accurate AF solutions.

bioinformatics↗

Scalable probabilistic matrix factorization for single-cell RNA-seq analysis

MotivationThe gene expression profile of a cell dictates its function in molecular processes, and can be used to probe its health status. This represents a step forward in the deep characterization of diseases such as cancer and may lead to breakthroughs in their treatment. The technology used to measure the gene expression of isolated cells, single-cell RNA-seq (scRNA-seq), has emerged in the last decade as a key enabler of this progress. However, the use of existing methods for dimensionality reduction, clustering and differential expression is limited by the specificities of the data obtained from scRNA-seq experiments, where technical factors may confound analyses of the true biological signal and contribute to spurious results. To overcome this issue, a possible approach is designing probabilistic generative models of the data with hidden variables encoding different underlying processes.\n\nResultsWe propose two novel probabilistic models for scRNA-seq data: modified probabilistic count matrix factorization (m-pCMF) and Bayesian zero-inflated negative binomial factorization (ZINBayes). These build upon previous models in the literature while leveraging scalable Bayesian inference via variational methods. We show that the proposed methods are competitive with the state-of-the-art models for robust dimensionality reduction in modern data sets, and improve upon the current best Bayesian model for small numbers of cells. The results show that building probabilistic models of latent variables which encode domain knowledge and using variational inference constitute a promising approach to analyse scRNA-seq data in a scalable way.\n\nAvailabilitym-pCMF and ZINBayes are publicly available as Python packages at https://github.com/pedrofale/, along with the code to reproduce all the results.\n\nContactsusanavinga@tecnico.ulisboa.pt

bioinformatics↗

MOMO - Multi-Objective Metabolic mixed integer Optimization: application to yeast strain engineering

In this paper, we explore the concept of multi-objective optimization in the field of metabolic engineering when both continuous and integer decision variables are involved in the model. In particular, we propose a multi-objective model that may be used to suggest reaction deletions that maximize and/or minimize several functions simultaneously. The applications may include, among others, the concurrent maximization of a bioproduct and of biomass, or maximization of a bioproduct while minimizing the formation of a given by-product, two common requirements in microbial metabolic engineering.\n\nProduction of ethanol by the widely used cell factory Saccharomyces cerevisiae was adopted as a case study to demonstrate the usefulness of the proposed approach in identifying genetic manipulations that improve productivity and yield of this economically highly relevant bioproduct. We did an in vivo validation and we could show that some of the predicted deletions exhibit increased ethanol levels in comparison with the wild-type strain. The multi-objective programming framework we developed, called Momo, is open-source and uses PolySCIP{ddagger} as underlying multi-objective solver. Momo is available at http://momo-sysbio.gforge.inria.fr

systems biology↗

Consensus outlier detection in survival analysis using the rank product test

Survival analysis is a well known technique in the medical field. The identification of individuals whose survival time is too short or to long given their profile, assumes great importance for the detection of new prognostic factors. The study of these outlying observations have gained increasing relevancy with the availability of high-throughput molecular and clinical data for large cohorts of patients. Several methods for outlier detection in survival data have been proposed, which include the analysis of the residuals, the measurement of the concordance c-index, and methods based on quantile regression for censored data. However, different results are obtained depending on the type of method used. In order to solve the disparity of results we proposed to apply the Rank Product test. A simulated dataset, and two clinical datasets were used to illustrate our proposed consensus outlier detection method, one from myeloma disease and the other from The Cancer Genome Atlas (TCGA) ovarian cancer. Finally, the Rank Product with multiple testing corrections was performed in order to identify which observations have the highest rank amongst the methods considered. Our results illustrate the potential of this consensus approach for the automated retrieval of outliers and also the identification of biomarkers associated with survival in large datasets.

bioinformatics↗

Sparse network-based regularization for the analysis of patientomics high-dimensional survival data

Data availability by modern sequencing technologies represents a major challenge in oncological survival analysis, as the increasing amount of molecular data hampers the generation of models that are both accurate and interpretable. To tackle this problem, this work evaluates the introduction of graph centrality measures in classical sparse survival models such as the elastic net.\n\nWe explore the use of network information as part of the regularization applied to the inverse problem, obtained both by external knowledge on the features evaluated and the data themselves. A sparse solution is obtained either promoting features that are isolated from the network or, alternatively, hubs, i.e., features that are highly connected within the network.\n\nWe show that introducing the degree information of the features when inferring survival models consistently improves the model predictive performance in breast invasive carcinoma (BRCA) transcriptomic TCGA data while enhancing model interpretability. Preliminary clinical validation is performed using the Cancer Hallmarks Analytics Tool API and the String database.\n\nThese case studies are included in the recently released glmSparseNet R package1, a flexible tool to explore the potential of sparse network-based regularizers in generalized linear models for the analysis of omics data.

bioinformatics↗

MassBlast: A workflow to accelerate RNA-seq and DNA database analysis

SummaryCurrent workflows for sequence analysis heavily depend on user input and manual curation. New specialized tools and methods are appearing all the time, but the actions required for a full analysis are disconnected and very time-consuming. The software we propose, MassBlast, combines BLAST+ and an automated workflow analysis to filter the results and significantly improve the annotation of multiple sequencing databases for exploring new biosynthetic pathways and new protein families, among other applications. MassBlast is fully configurable and reproducible.\n\nAvailability and ImplementationThe MassBlast package is written in Ruby. Source code and releases are freely available from Github (https://github.com/averissimo/mass-blast) for all major platforms (Linux, MS Windows and OS X) under the GPLv3 license.\n\nContactandre.verissimo@tecnico.ulisboa.pt

bioinformatics↗