A5100743061- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- SARS-CoV-2 detection and testing
- Long-Term Effects of COVID-19
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- COVID-19 epidemiological studies
- Dementia and Cognitive Impairment Research
- Folate and B Vitamins Research
- Pancreatic function and diabetes
- Metabolism and Genetic Disorders
- Metabolomics and Mass Spectrometry Studies
- Healthcare Systems and Reforms
- Telomeres, Telomerase, and Senescence
- Salivary Gland Disorders and Functions
- CRISPR and Genetic Engineering
- Clostridium difficile and Clostridium perfringens research
- Clinical Reasoning and Diagnostic Skills
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diabetes Management and Research
- Moyamoya disease diagnosis and treatment
- Molecular Biology Techniques and Applications
- Genomics and Phylogenetic Studies
University of Lisbon
2011-2024
Hospital Del Mar
2024
European Bioinformatics Institute
2024
University College London
2024
Royal National Orthopaedic Hospital
2024
Genomics England
2024
Boston Children's Hospital
2024
Instituto de Medicina Molecular João Lobo Antunes
2014-2024
Lusíada University of Lisbon
2021
Los Alamos National Laboratory
2021
SARS-CoV-2 has emerged as a human pathogen, causing clinical signs, from fever to pneumonia-COVID-19-but may remain mild or asymptomatic. To understand the continuing spread of virus, detect those who are and were infected, follow immune response longitudinally, reliable robust assays for detection immunological monitoring needed. We quantified IgM, IgG, IgA antibodies recognizing receptor-binding domain (RBD) Spike (S) protein over period 6 months following COVID-19 onset. report detailed...
Abstract Telomere fusions (TFs) can trigger the accumulation of oncogenic alterations leading to malignant transformation and drug resistance. Despite their relevance in tumour evolution, our understanding patterns consequences TFs human cancers remains limited. Here, we characterize rates spectrum somatic across >30 cancer types using whole-genome sequencing data. are pervasive tumours with varying markedly within types. In addition end-to-end fusions, find that mechanistically link...
Accurate detection of somatic structural variants (SVs) and copy number aberrations (SCNAs) is critical to inform the diagnosis treatment human cancers. Here, we describe SAVANA, a computationally efficient algorithm designed for joint analysis SVs, SCNAs, tumour purity ploidy using long-read sequencing data. SAVANA relies on machine learning distinguish true SVs from artefacts provide prediction errors individual SVs. Using high-depth Illumina nanopore whole-genome data 99 tumours matched...
During the COVID-19 pandemic, Portugal has experienced three distinct SARS-CoV-2 infection waves. We previously documented prevalence of immunity, measured by specific antibodies, in September 2020, 6 months after initial moderate wave. Here, we show seroprevalence changes later, up to second week March 2021, shortly following third wave, which was one most severe world, and 2 start vaccination campaign. A longitudinal epidemiological study conducted, with a stratified quota sample...
Biobank saliva sample quality depends on specific criteria applied to collection, processing, and storage. In spite of the growing interest in as a diagnostic fluid, few biobanks currently store large collections such samples. The development standard operating procedure (SOP) for collection control is fundamental establishment new biobank, which stores samples be made available research community. Different methods were tested regarding total volume protein obtained, content, profiles,...
Abstract Importance Drug shortages leave affected patients in a vulnerable position. Objective To describe incidence and prevalence of use for medicines with suggested at least one European country, as announced by the Medicines Agency, to characterise users these drugs including indication use, duration dosage. Design We performed descriptive cohort study from 2010 up 2024 network databases which have mapped their data Observational Medical Outcomes Partnership (OMOP) Common Data Model...
<title>Abstract</title> Accurate detection of somatic structural variants (SVs) and copy number aberrations (SCNAs) is critical to inform the diagnosis treatment human cancers. Here, we describe SAVANA, a computationally efficient algorithm designed for joint analysis SVs, SCNAs, tumour purity ploidy using long-read sequencing data. SAVANA relies on machine learning distinguish true SVs from artefacts provide prediction errors individual SVs. Using high-depth Illumina nanopore whole-genome...
In September 2020, we tested 13,398 persons in Portugal for antibodies against severe acute respiratory syndrome coronavirus 2 by using a quota sample stratified age and population density. We found seroprevalence of 2.2%, 3-4 times larger than the official number cases at end first wave pandemic.
Abstract Whole-genome sequencing (WGS) of human cancers has revealed that structural variation, which refers to the rearrangement genome leading deletion, amplification reshuffling DNA segments ranging from a few hundred bp entire chromosomes, is key mutational process in cancer evolution. Notably, pan-cancer analyses have both simple and complex forms variation are pervasive across diverse cancers, often underpin drug resistance metastasis. To date, study genomes relied on analysis...
SARS-CoV-2 has emerged as a novel human pathogen, causing clinical signs, from fever to pneumonia – COVID-19 but may remain mild or even asymptomatic. To understand the continuing spread of virus, detect those who are and were infected, follow immune response longitudinally, reliable robust assays for detection immunological monitoring needed have been setup around world. We quantified immunoglobulin M (IgM), IgG IgA antibodies recognizing receptor-binding domain (RBD) Spike (S) protein over...
Abstract During the COVID-19 pandemic, Portugal has experienced three distinct SARS-CoV-2 infection waves. We previously documented prevalence of immunity, measured by specific antibodies, in September 2020, six months after initial moderate wave. Here we show seroprevalence changes later, up to second week March 2021, shortly following third wave, which was one most severe world, and two start vaccination campaign. A longitudinal epidemiological study conducted, with a stratified quota...
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<h3>Introduction</h3> Acute gastroenteritis (AGE) remains, throughout Europe, a public health issue. Under the age of 5, some 20 to 30% bacterial microorganisms are identified. However, cost-effectiveness routine stool cultures yielding only 2% results preclude culturing. <h3>Objective</h3> Evaluation value culture children with AGE. <h3>Methods</h3> Retrospective data collection from clinical records patients less than 18 years old submitted over one year period. <h3>Results</h3> Out 322...