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ReporType: A Flexible Bioinformatics Tool for Targeted Loci Screening and Typin...

Cruz, Helena; Pinheiro, Miguel; Borges, Vítor

In response to the pressing need for continuous monitoring of emergence and circulation of pathogens through genomics, it is imperative to keep developing bioinformatics tools that can help in their rapid characterization and classification. Here, we introduce ReporType, a versatile bioinformatics pipeline designed for targeted loci screening and typing of infectious agents. Developed using the snakemake workfl...


INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic d...

Santos, João Dourado; Sobral, Daniel; Pinheiro, Miguel; Isidro, Joana; Bogaardt, Carlijn; Pinto, Miguel; Eusébio, Rodrigo; Santos, André; Mamede, Rafael

Background: Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack of bioinformatics tools and/or expertise. In order to face this challenge, we have previously developed INSaFLU, a free web-based bioinformatics platform for virus next-generation sequencing data analysis. Here, we considerably expanded its genomic surveillance component and deve...


Stable variable selection method with shrinkage regression applied to the selec...

Afreixo, Vera; Tavares, Ana Helena; Enes, Vera; Pinheiro, Miguel; Rodrigues, Leonor; Moura, Gabriela

In this work, we aimed to establish a stable and accurate procedure with which to perform feature selection in datasets with a much higher number of predictors than individuals, as in genomewide association studies. Due to the instability of feature selection where many potential predictors are measured, a variable selection procedure is proposed that combines several replications of shrinkage regression models...


INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic d...

Santos, João Dourado; Sobral, Daniel; Pinheiro, Miguel; Isidro, Joana; Bogaardt, Carlijn; Pinto, Miguel; Eusébio, Rodrigo; Santos, André; Mamede, Rafael

Background: Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack of bioinformatics tools and/or expertise. In order to face this challenge, we have previously developed INSaFLU, a free web-based bioinformatics platform for virus next-generation sequencing data analysis. Here, we considerably expanded its genomic surveillance component and deve...


Myocardial RNA sequencing reveals new potential therapeutic targets in heart fa...

Inácio, José M.; Cristo, Fernando; Pinheiro, Miguel; Vasques-Nóvoa, Francisco; Saraiva, Francisca; Nunes, Mafalda M.; Rosas, Graça; Reis, Andreia

Heart failure with preserved ejection fraction (HFpEF) represents a global health challenge, with limited therapies proven to enhance patient outcomes. This makes the elucidation of disease mechanisms and the identification of novel potential therapeutic targets a priority. Here, we performed RNA sequencing on ventricular myocardial biopsies from patients with HFpEF, prospecting to discover distinctive transcri...


Sequenciação de DNA – NGS manual de boas práticas

Regateiro, Fernando (coord.); Marques, Sofia; Neto, Sonya; Pinheiro, Miguel; Santos, Manuel; Moura, Gabriela

Sem resumo disponível.


Genetic predisposition for low functional status in COPD

Marçalo, Rui; Rodrigues, Guilherme; Pinheiro, Miguel; Neto, Sonya; Marques, Sofia L.; Simão, Paula; Martins, Vitória; Andrade, Lília

Sem resumo disponível.


Assessment of the stability of a procedure for variables selection in high dime...

Rodrigues, Leonor Carvalho; Cabral, Jorge; Tavares, Ana Helena; Enes, Vera; Pinheiro, Miguel; Moura, Gabriela; Afreixo, Vera


Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences am...

Marçalo, Rui; Neto, Sonya; Pinheiro, Miguel; Rodrigues, Ana J.; Sousa, Nuno; Santos, Manuel A. S.; Simão, Paula; Valente, Carla; Andrade, Lília

Populations seem to respond differently to the global pandemic of severe acute respiratory syndrome coronavirus 2. Recent studies show individual variability in both susceptibility and clinical response to COVID-19 infection. People with chronic obstructive pulmonary disease (COPD) constitute one of COVID-19 risk groups, being already associated with a poor prognosis upon infection. This study aims contributing...


Unveiling the genome of Limtongozyma cylindracea

Carvalho, Maria J.; Pinheiro, Miguel; Reis, Andreia; Bezerra, Ana Rita; Santos, Manuel A. S.; Moura, Gabriela


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