A5074690737- Selenium in Biological Systems
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Epigenetics and DNA Methylation
- Sexual Differentiation and Disorders
- Genomic variations and chromosomal abnormalities
- Antifungal resistance and susceptibility
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Data Quality and Management
- Health, Environment, Cognitive Aging
- Research Data Management Practices
- Hormonal Regulation and Hypertension
- Biological Research and Disease Studies
- Scientific Computing and Data Management
- Sperm and Testicular Function
- Genomics and Chromatin Dynamics
- Attention Deficit Hyperactivity Disorder
- Prenatal Screening and Diagnostics
- Trace Elements in Health
- Fungal Infections and Studies
Universidade de São Paulo
2020-2025
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2023-2024
<title>Abstract</title> Chronic pulmonary aspergillosis (CPA) is a debilitating condition often affecting immunocompetent patients with underlying structural lung diseases, particularly tuberculosis. This study investigates single nucleotide variants (SNVs) in immunogenetic-related genes among Brazilian cohort CPA. Twelve confirmed CPA, based on ESCMID/ERS criteria, were sequenced using NGS technology. Variants annotated, classified ACMG guidelines, and analyzed for potential impact protein...
Chronic pulmonary aspergillosis (CPA) is a debilitating condition often affecting immunocompetent patients with underlying structural lung diseases, particularly tuberculosis. This study investigates single nucleotide variants (SNVs) in immunogenetic-related genes among Brazilian cohort CPA. Twelve confirmed CPA, based on ESCMID/ERS criteria, were sequenced using NGS technology. Variants annotated, classified ACMG guidelines, and analyzed for potential impact protein interactions immune...
Background/Objectives: Chronic pulmonary aspergillosis (CPA) is a debilitating condition often affecting immunocompetent patients with underlying structural lung diseases, particularly tuberculosis. This study investigates single nucleotide variants (SNVs) in immunogenetic-related genes among Brazilian cohort CPA. Methods: Twelve confirmed CPA, based on ESCMID/ERS criteria, were sequenced using custom multigenic panel sequencing. Variants annotated, classified ACMG guidelines, and analyzed...
Tumor entities of the Central Nervous System (CNS) are defined by WHO classification and range from benign neoplasms to highly malignant tumors, making histopathological challenging. This diverse spectrum complicates clinical decision-making interpretation validation trial results. The methodology based on DNA methylation profiling CNS tumors offers greater diagnostic precision compared traditional morphological methods. In this study, we analyzed 16 samples medulloblastomas ependymomas,...
Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible genetic syndromes depending on affected region. Although a deletion 5p is syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies use traditional cytogenetic techniques and not molecular techniques.The authors have investigated 29 patients clinical suspicion of 5p- using...
Abstract Objectives Male infertility accounts for approximately 30% of cases reproductive failure. The characterization genetic variants using cytogenomic techniques is essential the adequate clinical management these patients. We aimed to conduct a cytogenetic investigation numerical and structural rearrangements genomic study Y chromosome microdeletions/microduplications in infertile men derived from single centre with over 14 years experience. Results evaluated 151 transversal peripheral...
Blood selenium (Se) concentrations differ substantially by population and could be influenced genetic variants, increasing Se deficiency-related diseases. We conducted a genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with serum deficiency in 382 adults admixed ancestry. Genotyping arrays were combined yield 90,937 SNPs. R packages applied quality control imputation. also performed the ancestral proportion analysis. The Search Tool for...
<title>Abstract</title> <bold>Background/Objectives:</bold> <italic>KMT2B</italic>-related dystonia (DYT28, OMIM #617284), is a progressive neurological condition characterized by early-onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of genome methylation epi-signature methodology to functionally validate 2 variants uncertain significance (VUS) in <italic>KMT2B</italic> gene. <bold>Methods:</bold> Genome-wide status was assessed using EPIC...
KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of genome methylation episignature methodology to functionally validate two variants uncertain significance (VUS) in KMT2B gene.
Abstract Objectives Male infertility accounts for approximately 30% of cases reproductive failure. The characterization genetic variants using cytogenomic techniques is essential the adequate clinical management these patients. We aimed to conduct a cytogenetic investigation numerical and structural rearrangements genomic study Y chromosome microdeletions/microduplications in infertile men derived from single centre with over 14 years experience. Results evaluated 151 transversal peripheral...
Abstract Background: Genomic rearrangements encompass deletions, duplications, inversions, insertions and translocations may be the cause of several genetic diseases. One most frequent mechanisms that generates these is Non-Allelic Homologous Recombination (NAHR). They are caused by a misalignment between regions high level similarity, like Low Copy Repeats (LCRs) Alu sequences. We aimed to sequence breakpoint patient with single deletion on chromosome 22q13.2 in order understand genomic...
Abstract The diversity of techniques used in an academic research laboratory generates a range raw data with different formats and information that can exceed 1 gigabyte or terabyte per processing performed. Thus, laboratories need to seek efficient solutions for the management, analysis curation your data. CitoLIMS tool was developed in-house meet this specific demand facilitate secure management analytics published within scope healthcare field.