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Publicações

Publicações por LIAAD

2025

PRECISION GENOME ANALYSIS: UNRAVELING SNVS AND CNVS WITH A MULTI-VARIANT CALLER WGS WORKFLOW

Autores
Ferreira, M; José, CS; Almeida, F; Maqueda, J; Monteiro, R; Ferreira, P; Oliveira, C;

Publicação
MEDICINE

Abstract

2025

AdhesionScore: A Prognostic Predictor of Breast Cancer Patients Based on a Cell Adhesion-Associated Gene Signature

Autores
Esquível, C; Ribeiro, R; Ribeiro, AS; Ferreira, PG; Paredes, J;

Publicação
CANCERS

Abstract
Background: Aberrant or loss of cell adhesion drives invasion and metastasis, key hallmarks of cancer progression. In this work, we hypothesized that a gene signature related to cell adhesion could predict breast cancer prognosis. Methods: Highly variant genes were tested for association with overall survival using Cox regression. Adhesion-related genes were identified through gene ontology analysis and multivariate Cox regression, with AIC selection, defined the prognostic signature. The AdhesionScore was then calculated as a weighted sum of gene expression, with risk stratification assessed by Kaplan-Meier and log-rank tests. Results: We found that the AdhesionScore was a significant independent predictor of poor survival in three large independent datasets, as it provided a robust stratification of patient prognosis in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) (HR: 2.65; 95% CI: 2.33-3.0, p = 2.34 x 10-51), The Cancer Genome Atlas (TCGA) (HR: 3.46; 95% CI: 2.35-5.09, p = 3.50 x 10-10), and the GSE96058 (HR: 2.83; 95% CI: 2.20-3.65, p = 6.29 x 10-16) datasets. The 5-year risk of death in the high-risk group was 32.41% for METABRIC, 27.8% for TCGA, and 17.54% for GSE96058 datasets. Consistently, HER2-enriched and triple-negative breast carcinomas (TNBC) cases showed higher AdhesionScores than luminal subtypes, indicating an association with aggressive tumor biology. Conclusions: We have developed, for the first time, a molecular signature based on cell adhesion, as well as an associated AdhesionScore that can predict patient prognosis in invasive breast cancer, with potential clinical application. We developed a novel adhesion-based molecular signature, the AdhesionScore, that robustly predicts prognosis in breast cancer across independent cohorts, highlighting its potential clinical utility for patient risk stratification.

2025

Don't Forget This: Augmenting Results with Event-Aware Search

Autores
Sousa, H; Ward, AR; Alonso, O;

Publicação
PROCEEDINGS OF THE EIGHTEENTH ACM INTERNATIONAL CONFERENCE ON WEB SEARCH AND DATA MINING, WSDM 2025

Abstract
Events like Valentine's Day and Christmas can influence user intent when interacting with search engines. For example, a user searching for gift around Valentine's Day is likely to be looking for Valentine's-themed options, whereas the same query close to Christmas would more likely suggest an interest in Holiday-themed gifts. These shifts in user intent, driven by temporal factors, are often implicit but important to determine the relevance of search results. In this demo, we explore how incorporating temporal awareness can enhance search relevance in an e-commerce setting. We constructed a database of 2K events and, using historical purchase data, developed a temporal model that estimates each event's importance on a specific date. The most relevant events on the date the query was issued are then used to enrich search results with event-specific items. Our demo illustrates how this approach enables a search system to better adapt to temporal nuances, ultimately delivering more contextually relevant products.

2025

A Review of Voicing Decision in Whispered Speech: From Rules to Machine Learning

Autores
da Silva, JMPP; Duarte Nunes, G; Ferreira, A;

Publicação

Abstract

2025

Multilayer horizontal visibility graphs for multivariate time series analysis

Autores
Silva, VF; Silva, ME; Ribeiro, P; Silva, F;

Publicação
DATA MINING AND KNOWLEDGE DISCOVERY

Abstract
Multivariate time series analysis is a vital but challenging task, with multidisciplinary applicability, tackling the characterization of multiple interconnected variables over time and their dependencies. Traditional methodologies often adapt univariate approaches or rely on assumptions specific to certain domains or problems, presenting limitations. A recent promising alternative is to map multivariate time series into high-level network structures such as multiplex networks, with past work relying on connecting successive time series components with interconnections between contemporary timestamps. In this work, we first define a novel cross-horizontal visibility mapping between lagged timestamps of different time series and then introduce the concept of multilayer horizontal visibility graphs. This allows describing cross-dimension dependencies via inter-layer edges, leveraging the entire structure of multilayer networks. To this end, a novel parameter-free topological measure is proposed and common measures are extended for the multilayer setting. Our approach is general and applicable to any kind of multivariate time series data. We provide an extensive experimental evaluation with both synthetic and real-world datasets. We first explore the proposed methodology and the data properties highlighted by each measure, showing that inter-layer edges based on cross-horizontal visibility preserve more information than previous mappings, while also complementing the information captured by commonly used intra-layer edges. We then illustrate the applicability and validity of our approach in multivariate time series mining tasks, showcasing its potential for enhanced data analysis and insights.

2025

Bayesian Modelling of Time Series of Counts with Missing Data

Autores
Silva, I; Silva, ME; Pereira, I;

Publicação
Springer Proceedings in Mathematics and Statistics

Abstract
The presence of missing data poses a common challenge for time series analysis in general since the most usual requirement is that the data is equally spaced in time and therefore imputation methods are required. For time series of counts, the usual imputation methods which usually produce real valued observations, are not adequate. This work employs Bayesian principles for handling missing data within time series of counts, based on first-order integer-valued autoregressive (INAR) models, namely Approximate Bayesian Computation (ABC) and Gibbs sampler with Data Augmentation (GDA) algorithms. The methodologies are illustrated with synthetic and real data and the results indicate that the estimates are consistent and present less bias when the percentage of missing observations decreases, as expected. © The Author(s), under exclusive license to Springer Nature Switzerland AG 2025.

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