A5065966246- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- SARS-CoV-2 and COVID-19 Research
- SARS-CoV-2 detection and testing
- Biosensors and Analytical Detection
- Cancer-related molecular mechanisms research
- Lung Cancer Treatments and Mutations
- Protein Degradation and Inhibitors
- Hepatitis B Virus Studies
- Viral Infections and Vectors
- Hepatitis C virus research
- Viral Infections and Outbreaks Research
- RNA modifications and cancer
- MicroRNA in disease regulation
- Hearing, Cochlea, Tinnitus, Genetics
- Medical Coding and Health Information
- Erythrocyte Function and Pathophysiology
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Hemoglobinopathies and Related Disorders
- Vector-Borne Animal Diseases
- Viral Infectious Diseases and Gene Expression in Insects
- HIV/AIDS Research and Interventions
Hospital Israelita Albert Einstein
2020-2025
Instituto do Câncer do Estado de São Paulo
2024
Universidade de São Paulo
2020-2024
College of American Pathologists
2021
American College of Medical Genetics
2021
Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Genomes Project is envisioned further the implementation of genomic medicine into public healthcare system. Here we report validation results a whole genome sequencing (WGS) procedure for clinical laboratories. In addition, data quality first 1,200 real-world patients sequenced. We sequenced well-characterized group 76 samples, including seven gold standard genomes, using PCR-free WGS protocol on Illumina Novaseq...
Abstract New World arenaviruses can cause chronic infection in rodents and hemorrhagic fever humans. We identified a Sabiá virus–like mammarenavirus patient with fatal from São Paulo, Brazil. The virus was detected through virome enrichment metagenomic next-generation sequencing technology.
ABSTRACT We conducted a study to validate the automated scoring of Fluorescent in Situ Hybridization (FISH) routine cytogenetics laboratory using selected CD138‐positive cells samples from patients with multiple myeloma. A workstation was optimized based on manufacturer's configurations. Six commercial probes ( CDKN2C/CKS1B , RB1/DLEU1/LAMP1 TP53/CEN17 FGFR3::IGH CCND1::IGH and IGH::MAF ) were examined detect gains, losses, rearrangements genes across total 180 slides. used reference values...
Abstract Since the first reported case of new coronavirus infection in Wuhan, China, researchers and governments have witnessed an unseen rise number cases. Thanks to rapid work Chinese scientists, pathogen now called SARS-CoV-2 has been identified its whole genome was deposited public databases by early January 2020. The availability allowed develop Reverse Transcription—Polymerase Chain Reaction (RT-PCR) assays, which are gold-standard for molecular diagnosis respiratory syndrome COVID19....
Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical social burden. We studied whole-genome sequencing data of cohort 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing to investigate pathogenic likely variants associated with nonsyndromic (NSHL). found relevant frequencies harboring these alterations: 222 heterozygotes (10.59%) for sequence variants, 54 (2.58%) copy-number (CNV), four homozygotes (0.19%) variants....
Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation benign and pathogenic variants gain importance. In this article, we used segregation analysis other molecular data to reclassify or likely several rare clinically curated autosomal dominant inheritance from a cohort 500 Brazilian patients with diseases. This study included only symptomatic who had undergone investigation exome sequencing suspected diseases genetic...
Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of vast amount genomic data it generates can be challenging. To address this, American College Medical Genetics and Genomics Association for Molecular Pathology have established guidelines standardized variant interpretation. In this manuscript, we present updated Hospital Israelita Albert Einstein Standards Constitutional Sequence Variants Classification, incorporating modifications...
Hereditary Xerocytosis (HX) is an autosomal dominantly inherited congenital hemolytic anemia associated with erythrocyte dehydration due to decreased intracellular potassium content resulting in increased mean corpuscular hemoglobin concentration. The affected members of HX families show compensated splenomegaly, hemosiderosis, and perinatal edema but are large part transfusion independent. Functional studies a link between mutations mechanosensitive ion channel, encoded by PIEZO1 gene the...
Category: Respiratory Endoscopy Introduction: Histopathological analyses and classification by the Tumor, Node, Metastasis System (TNM) are key-elements in therapeutic decision-making for non-small cell lung cancer (NSCLC).() Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is effective obtaining biopsies of hilar mediastinal lymph nodes (MLN), tissue collection to staging NSCLC.(,) The assessment clinically significant genomic alterations surgically resected...
Varstation is a cloud-based NGS data processor and analyzer for human genetic variation. This resource provides customizable, centralized, safe, clinically validated environment aiming to improve optimize the flow of analyses reports related with clinical research genetics.
Abstract Rare diseases affect 3.2 to 13.2 million individuals in Brazil. The Brazilian Genomes Project is envisioned further the implementation of genomic medicine into public healthcare system. Here we report results validation a whole genome sequencing (WGS) procedure for clinical laboratory. In addition, data quality first 1,200 real world patients sequenced. For validation, sequenced well characterized group 76 samples, including seven gold standard genomes, using PCR-free WGS protocol...
In Brazil, few studies on the molecular aspects of hepatitis B virus (HBV) infection have been conducted in interior regions Sao Paulo State. This study aimed to identify HBV genotypes and evaluate strains with resistance mutations for nucleoside analogues Administrative Region (AR) municipality Jose do Rio Preto. We performed nested PCRs 127 samples from Health Care Services AR amplify, sequence analyze fragments DNA, order mutations. The S/Pol 126 were successfully amplified sequenced....
ABSTRACT Since first reported case of the new coronavirus infection in Wuhan, China, researchers and governments have witnessed an unseen rise number cases. Thanks to rapid work Chinese scientists, pathogen now called SARS-CoV-2 has been identified its whole genome deposited public databases by early January 2020. The availability allowed develop Reverse Transcription - Polymerase Chain Reaction (RT-PCR) assays, which are gold-standard for molecular diagnosis respiratory syndrome COVID19....
Abstract Hereditary cancer risk syndromes are caused by germline variants. Most studies on hereditary have been conducted in white populations. We report the largest study Brazilian individuals with multiple ethnicities. genotyped 1682 from all regions of country Next-generation sequencing (NGS) panels. were women personal/family history cancer, mostly breast and ovarian. identified 321 pathogenic/likely pathogenic (P/LP) variants 305 people (18.1%) distributed among 32 genes. BRCA1 BRCA2...
Abstract Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation benign and pathogenic variants gain importance.In this article, we used segregation analysis other molecular data to reclassify or likely several rare clinically curated autosomal dominant inheritance from a cohort 500 Brazilian patients with diseases.This study included only symptomatic who had undergone investigation exome sequencing suspected diseases genetic...
Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation benign and pathogenic variants gain importance. In this article, we used segregation analysis other molecular data to reclassify or likely several rare clinically curated autosomal dominant inheritance from a cohort 500 Brazilian patients with diseases. This study included only symptomatic who had undergone investigation exome sequencing suspected diseases genetic...