8 documents found, page 1 of 1
Sequenciação de DNA – NGS manual de boas práticas
Regateiro, Fernando (coord.); Marques, Sofia; Neto, Sonya; Pinheiro, Miguel; Santos, Manuel; Moura, GabrielaSem 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, LíliaSem resumo disponível.
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, LíliaPopulations 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...
Integration of segmented regression analysis with weighted gene correlation net...
Ferreira, Margarida; Francisco, Stephany; Soares, Ana R.; Nobre, Ana; Pinheiro, Miguel; Reis, Andreia; Neto, Sonya; Rodrigues, Ana João; Sousa, NunoGene expression alterations occurring with aging have been described for a multitude of species, organs, and cell types. However, most of the underlying studies rely on static comparisons of mean gene expression levels between age groups and do not account for the dynamics of gene expression throughout the lifespan. These studies also tend to disregard the pairwise relationships between gene expression profiles...
Genetic risk for covid-19 outcomes in COPD
Marçalo, Rui; Neto, Sonya; Pinheiro, Miguel; Rodrigues, Ana; Sousa, Nuno; Santos, Manuel; Simão, Paula; Valente, Carla; Andrade, Lília; Marques, AldaThere is strong 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 for poor outcomes upon infection. This study contributes to unveil the underlying reasons for such outcomes by looking at the genetic background of people with COPD. 255 people with COPD (66±9y; 72%♂; FEV1 53.01...
The worldwide covid-19 genetic risk scenario
Marçalo, Rui; Neto, Sonya; Pinheiro, Miguel; Rodrigues, Ana; Sousa, Nuno; Santos, Manuel; Simão, Paula; Valente, Carla; Andrade, Lília; Marques, AldaPopulations respond differently to the current global pandemic of covid-19. This study explores the role of individual factors in the differential response to covid-19, by looking at the genetic background of worldwide populations. Significant SNPs (susceptibility: rs286914/rs12329760; severity: rs657152/rs11385942) were selected from the literature and their allelic frequencies used to calculate the probabilit...
The genomics facility of iBiMED: bioinformatics lab
Reis, Andreia; Pinheiro, Miguel; Carvalho, Maria João; Neto, Sonya; Ferreira, Margarida; Enes, Vera; Moura, GabrielaThe Genomics facility of iBiMED (iBiGEN), provides genomics services, including bioinformatics and statistical analysis to iBiMED researchers, and to external users. Since our start, in 2018, the bioinformatic lab have carried out 52 studies at a genomic scale, including de novo genome sequencing with variant detection (SNPs, indels, CNVs, LOH), whole exome or gene panel sequencing, RNA sequencing analysis (tot...
Multiomics approaches to study ageing and age-related diseases in research mode...
Reis, Andreia; Coimbra, Rita; Pinheiro, Miguel; Enes, Vera; Ferreira, Margarida; Neto, Sonya; Moura, GabrielaSem resumo disponível.