A5053347488- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Assistive Technology in Communication and Mobility
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- SARS-CoV-2 and COVID-19 Research
- Biosensors and Analytical Detection
- Health Education and Validation
- Health, Nursing, Elderly Care
- Medical Coding and Health Information
- Genetics, Bioinformatics, and Biomedical Research
- Hearing, Cochlea, Tinnitus, Genetics
- SARS-CoV-2 detection and testing
- Global Maternal and Child Health
- Maternal and fetal healthcare
- Forensic and Genetic Research
- Acute Myeloid Leukemia Research
- Maternal and Perinatal Health Interventions
Hospital Israelita Albert Einstein
2021-2023
Universidade de São Paulo
2011-2019
Universidade de Ribeirão Preto
2011
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 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....
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...
Objective: Precision medicine has gained extensive use in laboratories worldwide for the diagnosis of genetic diseases, reproductive pathologies, and cancer. State-of-the-art bioinformatics pipelines frameworks are currently available to aid physicians laboratory analysts interpreting results generating reports. However, same level support may not be precision applications infectious which is largely dominated by traditional methods such as culturing, sorology, PCR panels. Molecular...
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...
Introdução: O aumento da população idosa tem demandado o desenvolvimento de novos papéis principalmente para os idosos ativos que buscam desenvolver projetos futuros e acompanhar as mudanças tecnológicas. Objetivos: Descrever trabalho instrumentalização uso equipamentos eletrônicos do cotidiano. Métodos: Trata-se um relato experiência, intervenção desenvolvida no Projeto Inclusão Digital Idoso-PIDI, período agosto/2010 a agosto/2011. Discussão Resultados: Quanto à caracterização Projeto:...