A5031475367- Genomics and Phylogenetic Studies
- DNA and Nucleic Acid Chemistry
- Genomics and Chromatin Dynamics
- RNA and protein synthesis mechanisms
- Plant Virus Research Studies
- Bacteriophages and microbial interactions
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Neuroendocrine Tumor Research Advances
- Evolution and Genetic Dynamics
- Microbial Natural Products and Biosynthesis
- Virus-based gene therapy research
- Advanced biosensing and bioanalysis techniques
- Congenital Ear and Nasal Anomalies
- Biomedical Text Mining and Ontologies
- Streptococcal Infections and Treatments
- Neonatal and Maternal Infections
- Cerebrovascular and genetic disorders
- Cancer Genomics and Diagnostics
- Microbial Metabolic Engineering and Bioproduction
- Parkinson's Disease Mechanisms and Treatments
- Salivary Gland Tumors Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Genetic Neurodegenerative Diseases
Harvard University
2020-2024
Universidade Federal de Pelotas
2019-2022
University of Padua
2016-2022
G-quadruplexes are non-canonical nucleic-acid structures that control transcription, replication, and recombination in organisms. present eukaryotes, prokaryotes, viruses. In the latter, mounting evidence indicates their key biological activity. Since data on viruses scattered, we here a comprehensive analysis of potential quadruplex-forming sequences (PQS) genome all known can infect humans. We show occurrence location PQSs features characteristic each virus class family. Our statistical...
G-quadruplex (G4) structures that can form at guanine-rich genomic sites, including telomeres and gene promoters, are actively involved in genome maintenance, replication, transcription, through finely tuned interactions with protein networks. In the present study, we identified intermediate filament Vimentin as a binder nanomolar affinity for those G-rich sequences give rise to least two adjacent G4 units, named repeats. This interaction is supported by N-terminal domains of soluble...
ABSTRACT G-quadruplexes are non-canonical nucleic acid structures that control transcription, replication, and recombination in organisms. present eukaryotes, prokaryotes, viruses. In the latter, mounting evidence indicates their key biological activity. Since data on viruses scattered, we here a comprehensive analysis of putative genome all known can infect humans. We show presence, distribution, location features characteristic each virus class family. Our statistical proves presence...
G-quadruplexes (G4s) are non-canonical nucleic acid conformations that widespread in all kingdoms of life and emerging as important regulators both RNA DNA. Recently, two new higher-order architectures have been reported: adjacent interacting G4s with stable long loops forming stem-loop structures. As there no specialized tools to identify these conformations, we developed QPARSE.QPARSE can exhaustively search for degenerate potential quadruplex-forming sequences (PQSs) containing bulges...
Non-B DNA conformations play an important role in genomic rearrangements, structural three-dimensional organization and gene regulation. Many non-B structures show symmetrical properties as palindromes mirrors that can form hairpins, cruciform or triplexes. A comprehensive tool, capable to perform a fast genome wide search for exact degenerate patterns, is needed further investigating nucleotide tracts potentially forming structures.We developed NeSSie, easily customizable C/C++ 64-bit...
Despite the improvement in variant detection algorithms, visual inspection of read-level data remains an essential step for accurate identification variants genome analysis. We developed BamSnap, efficient BAM file viewer utilizing a graphics library and indexing. In contrast to existing viewers, BamSnap can generate high-quality snapshots rapidly, with customized tracks layout. As example, we produced images at 1000 genomic loci >2500 whole-genomes.BamSnap is freely available...
The advances of omics technologies have triggered the production an enormous volume data coming from thousands species. Meanwhile, joint international efforts like Gene Ontology (GO) consortium worked to provide functional information for a vast amount proteins. With these available, we developed FunTaxIS, tool that is first attempt infer taxonomy (i.e. how functions are distributed over taxa) combining and taxonomic information. FunTaxIS able define taxon specific space by exploiting...
Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability perform "N-of-1" analyses on individual patients with ultra-rare diseases. The increasing sizes of cohorts internationally newly enables cohort-wide new discoveries, but well-calibrated statistical genetics approaches jointly analyzing these are still under development. Undiagnosed Diseases Network (UDN) brings multiple clinical, research and experimental centers the same umbrella across United States...
ABSTRACT FGF14 (GAA) n repeat expansions are a common cause of idiopathic late-onset ataxia (SCA27B). The cerebellar form multiple system atrophy (MSA) has comparable clinical features, albeit faster progression. Hence, we performed an analysis genomic variability in South Korean cohort 199 patients with ‘probable’ MSA, compared 1,048 ethnically-matched controls. All whole genome sequences (WGS) depicted on computational platform, CGAP, to enable storage, visualization and for partners the...
Abstract Evolutionary studies require extensive examination of genomic information across all domains life. Despite the availability a large number genomes through GenBank, effective visualisation or comparison they contain is challenging due to many reasons including their size. We introduce GBRAP, comprehensive software tool analyse GenBank files, and an online database housing collection carefully curated, high-quality genome statistics for organisms available in RefSeq NCBI. Users can...
Whole genome sequencing is now routinely used to profile mutations in DNA the soma and germline, informing molecular diagnoses of disease therapeutic decisions. Structural variants (SVs) are main new type alterations we see more of, they often diagnostic, prognostic, or therapy-informing. However, size complexity SV data, combined with difficulty obtaining accurate calls, pose challenges interpretation SVs, requiring tedious visual inspection potentially pathogenic multiple visualization...
Abstract G-quadruplex (G4) structures that can form at guanine-rich genomic sites, including telomeres and gene promoters, are actively involved in genome maintenance, replication, transcription, through finely tuned interactions with protein networks. In the present study, we identified intermediate filament Vimentin as a binder nanomolar affinity for those G-rich sequences give rise to least two adjacent G4 units, named repeats. This interaction is supported by N-terminal domains of...
Carcinoides em cães são neoplasias raras do sistema celular neuroendócrino difuso. O termo tumor tem sido proposto e a manifestação clínica está relacionada com localização das massas. Apesar da baixa velocidade de crescimento metastatização, tais frequentemente malignas devem ser submetidas ressecção cirúrgica. Quando esta é realizada adequadamente, o desfecho geralmente satisfatório. Objetivou-se descrever um caso carcinoide cadela dez anos apresentando tenesmo presença fecaloma. A...
Carcinoids in dogs are rare neoplasms of the diffuse neuroendocrine cell system. The term tumor has been proposed and clinical manifestation is related to location. Despite low rate growth metastasis, such often malignant must undergo surgical resection. When this done properly, outcome usually satisfactory. objective study was describe a case carcinoid 10-year-old female with tenesmus presence fecaloma. patient received at private veterinary clinic and, after consultation imaging...
A mortalidade neonatal de cães leva a perdas econômicas e afetivas. Na primeira semana vida, os filhotes são mais suscetíveis infecções porque não possuem sistema imunológico microflora satisfatórios. identificação da etiologia morte fetal depende do exame histopatológico agentes infecciosos. O objetivo deste estudo foi relatar um caso septicemia causada por Streptococcus canis em neonato canino quatro dias, enviado para necropsia. veterinário responsável relatou que o apresentava apatia,...