A5041492821- RNA and protein synthesis mechanisms
- Advanced Proteomics Techniques and Applications
- PARP inhibition in cancer therapy
- RNA modifications and cancer
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Machine Learning in Bioinformatics
- CRISPR and Genetic Engineering
- Cytomegalovirus and herpesvirus research
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Monoclonal and Polyclonal Antibodies Research
- Signaling Pathways in Disease
- Genomics and Chromatin Dynamics
- Ferroptosis and cancer prognosis
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Bioinformatics and Genomic Networks
- interferon and immune responses
- Neonatal Respiratory Health Research
- SARS-CoV-2 and COVID-19 Research
DASA (Brazil)
2023-2024
Genomic (Brazil)
2023
Universidade Federal do Rio Grande do Norte
2014-2022
Instituto do Cérebro de Brasília
2017
Centro de Excelência em Bioinformática
2014
Biotech (Brazil)
2012
Institute of Bioinformatics
2012
Mucosal antigens induce generation of lamina propria plasma cells (PCs) that secrete dimeric immunoglobulin A (IgA) destined for transport across the epithelium. In addition, blood contains monomeric IgA. To study relationship between mucosal and systemic antibody responses, we took advantage celiac disease patient samples isolation gut PCs as well serum IgA IgG reactive with a gluten-derived peptide or autoantigen transglutaminase 2. Proteomic analysis revealed antigen-specific V-gene...
// Vandeclecio Lira da Silva 1, 2, 3, * , André Faustino Fonseca Marbella 1 Thayna Emilia Ana Carolina Coelho 3 José Eduardo Kroll 4 Jorge Estefano Santana de Souza 5 Beatriz Stransky 6 Gustavo Antonio 1,3 and Sandro Instituto do Cérebro, UFRN, Natal, Brazil 2 Ph.D. Program in Bioinformatics, Bioinformatics Multidisciplinary Environment (BioME), Digital Metropolis Institute, Bioinformática e Biotecnologia, Metrópole Digital, Departmento Engenharia Biomédica, These authors have contributed...
The nudix hydrolase 15 (NUDT15) gene acts in the metabolism of thiopurine, by catabolizing its active metabolite thioguanosine triphosphate into inactivated form, monophosphate. frequency alternative NUDT15 alleles, particular those that cause a drastic loss function, varies widely among geographically distinct populations. In general population northern Brazilian, high toxicity rates (65%) have been recorded patients treated with standard protocol for acute lymphoblastic leukemia, which...
Abstract Introduction Next generation sequencing technology has greatly reduced the cost and time required for a genome. An approach that is rapidly being adopted as an alternative method CNV analysis low‐pass whole genome (LP‐WGS). Here, we evaluated performance of LP‐WGS to detect copy number variants (CNVs) in clinical cytogenetics. Materials Methods DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected comparison used positive controls; our panel...
Genetic factors associated with COVID-19 disease outcomes are poorly understood. This study aimed to associate genetic variants in the SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6, XCR1, and ABO genes risk of severe forms Amazonian Native Americans, compare frequencies continental populations. The population was composed 64 Amerindians from Amazon region northern Brazil. difference between populations analyzed using Fisher's exact test, results were significant when p ≤ 0.05. We investigated...
Abstract In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first‐tier diagnostic test for infants hospitalized in neonatal intensive care units Brazilian healthcare system. The cohort presented here results from joint collaboration between private and public hospitals Brazil considering initiative clinical laboratory provide timely diagnosis critically ill infants. We performed trio (proband parents) WGS 21 suspected genetic disease with an...
The NFAT family of transcription factors has been primarily related to T cell development, activation, and differentiation. Further studies have shown that these ubiquitous proteins are observed in many types inside outside the immune system, involved several biological processes, including tumor growth, angiogenesis, invasiveness. However, specific role NFAT1 member naive B proliferation remains elusive. Here, we demonstrate factor controls Cyclin E expression, proliferation, growth vivo....
It is estimated that 10 to 20% of all genes in the human genome encode cell surface proteins and due their subcellular localization these represent excellent targets for cancer diagnosis therapeutics. Therefore, a precise characterization surfaceome set different types tumor needed. Using TCGA data from 15 new method identify genes, <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mrow><mml:mi>S</mml:mi></mml:mrow></mml:math>-score, we identified several potential...
Motivation. Alternative splicing events (ASEs) are prevalent in the transcriptome of eukaryotic species and known to influence many biological phenomena. The identification quantification these crucial for a better understanding processes. Next-generation DNA sequencing technologies have allowed deep characterization transcriptomes made it possible address issues. ASEs analysis, however, represents challenging task especially when different samples need be compared. Some popular tools...
Estimates show that 5–10% of breast cancer cases are hereditary, caused by genetic variants in autosomal dominant genes; these, 16% due to germline mutations the BRCA1 and BRCA2 genes. The comprehension mutation profile these genes Brazilian population, particularly Amazonian Amerindian groups, is scarce. We investigated fifteen polymorphisms Amerindians compared results with findings global populations publicly available 1000 Genomes Project database. Our study shows three (rs11571769,...
Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) platinum-based therapies. HRD testing provides relevant information to personalize patients' treatment options been progressively incorporated into diagnostic laboratories. Here, we assessed the performance of in-house system deployable in a clinical setting, comparing...
Understanding alternative splicing is crucial to elucidate the mechanisms behind several biological phenomena, including diseases. The huge amount of expressed sequences available nowadays represents an opportunity and a challenge catalog display events (ASEs). Although groups have faced this with relative success, we still lack computational tool that uses simple straightforward method retrieve, name present ASEs. Here SPLOOCE, portal for analysis human variants. SPLOOCE based on regular...
Integration of transcriptome data is a crucial step for the identification rare protein variants in mass-spectrometry (MS) with important consequences all branches biotechnology research. Here, we used Splooce, database splicing recently developed by us, to search MS derived from variety human tumor cell lines. More than 800 new were identified whose corresponding spectra specific entries Splooce. Although types (exon skipping, alternative splice sites and intron retention) found at same...
ABSTRACT Homologous Recombination Repair (HRR) testing has become increasingly important in clinical genomic labs due to the use of poly-ADP-ribose polymerase (PARP) inhibitor therapy for epithelial ovarian, fallopian tube, or peritoneum cancer. While sequencing and copy number variation analysis can identify patients with a pathogenic mutation BRCA1 BRCA2 who benefit from PARPi therapy, there are also may but do not have these mutations. To address this, our lab developed test called...
Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) platinum-based therapies. HRD testing provides relevant information to personalize patients&rsquo; treatment options, it been progressively incorporated in diagnostic laboratories. In this study, we evaluated the feasibility of in-house deployable a clinical setting,...
Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) platinum-based therapies. HRD testing provides relevant information to personalize patients&rsquo; treatment options, it been progressively incorporated in diagnostic laboratories. In this study, we evaluated the feasibility of in-house deployable a clinical setting,...
Cancers arise from the acquisition of DNA mutations, such as substitutions, deletions, amplifications, and rearrangements. Understanding distribution correlation mutations in cancer may aid characterization disease subsequent identification biomarkers for diagnosis treatment. The proteogenomics database (dbPepVar) created here combines genetic variation information dbSNP with protein sequences NCBI's RefSeq. Public mass spectrometry datasets (Ovarian, Colorectal, Breast, Prostate) were used...
Alternative splicing events (AS) is one of the most significant components behind complexity multi-cellular organisms. Most, if not all, multi-exonic human genes undergo AS. Many AS are involved in etiology cancer, among many other common disorders. The emergence next-generation sequencing offers a unique opportunity to explore variability generated by at an exhaustive way. Furthermore, recent developments new mass-spectometry platforms has allowed deeper survey proteome. Here, analysis...
ABSTRACT We evaluated the performance of low-pass whole genome sequencing (LP-WGS) to detect copy number variants (CNVs) in clinical cytogenetics. DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison; our panel included 44 (12 prenatal and 32 postnatal), comprising a total 55 chromosome imbalances. The cases chosen provide wide range clinically relevant CNVs, being vast majority associated intellectual disability or recognizable...