0000000000148130

AUTHOR

Paula Ruiz-hueso

0000-0003-0217-471x

showing 4 related works from this author

One is not enough: On the effects of reference genome for the mapping and subsequent analyses of short-reads.

2020

Mapping of high-throughput sequencing (HTS) reads to a single arbitrary reference genome is a frequently used approach in microbial genomics. However, the choice of a reference may represent a source of errors that may affect subsequent analyses such as the detection of single nucleotide polymorphisms (SNPs) and phylogenetic inference. In this work, we evaluated the effect of reference choice on short-read sequence data from five clinically and epidemiologically relevant bacteria (Klebsiella pneumoniae, Legionella pneumophila, Neisseria gonorrhoeae, Pseudomonas aeruginosa and Serratia marcescens). Publicly available whole-genome assemblies encompassing the genomic diversity of these species…

Systematic errorSingle Nucleotide PolymorphismsPathology and Laboratory MedicineGenomeKlebsiella PneumoniaeDatabase and Informatics MethodsData sequencesKlebsiellaMedicine and Health SciencesBiology (General)CladePhylogenyData ManagementEcologyPhylogenetic treeBacterial GenomicsMicrobial GeneticsChromosome MappingHigh-Throughput Nucleotide SequencingPhylogenetic AnalysisGenomicsBacterial PathogensPhylogeneticsLegionella PneumophilaComputational Theory and MathematicsMedical MicrobiologyModeling and SimulationPathogensSequence AnalysisResearch ArticleComputer and Information SciencesBioinformaticsQH301-705.5LegionellaSequence alignmentSingle-nucleotide polymorphismGenomicsComputational biologyMicrobial GenomicsBiologyResearch and Analysis MethodsPolymorphism Single NucleotideMicrobiologyCellular and Molecular NeurosciencePhylogeneticsGeneticsSNPBacterial GeneticsEvolutionary SystematicsMolecular BiologyMicrobial PathogensEcology Evolution Behavior and SystematicsTaxonomyEvolutionary BiologyBacteriaOrganismsBiology and Life SciencesBacteriologySequence AlignmentGenome BacterialReference genomePLoS Computational Biology
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Evolutionary and phenotypic characterization of spike mutations in a new SARS-CoV-2 Lineage reveals two Variants of Interest

2021

Molecular epidemiology of SARS-CoV-2 aims to monitor the appearance of new variants with the potential to change the virulence or transmissibility of the virus. During the first year of SARS-CoV-2 evolution, numerous variants with possible public health impact have emerged. We have detected two mutations in the Spike protein at amino acid positions 1163 and 1167 that have appeared independently multiple times in different genetic backgrounds, indicating they may increase viral fitness. Interestingly, the majority of these sequences appear in transmission clusters, with the genotype encoding mutations at both positions increasing in frequency more than single-site mutants. This genetic outco…

2019-20 coronavirus outbreakLineage (genetic)GeographyResearch councilSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)European Regional Development Fundmedia_common.cataloged_instanceSpike (database)European unionValencian communityGenealogymedia_common
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Use of next generation sequencing technologies for the diagnosis and epidemiology of infectious diseases

2020

[ES]: Por primera vez, la tecnología de secuenciación masiva permite acceder a la información genómica a un precio y a una escala tales, que se está implementado en la práctica clínica y epidemiológica rutinaria. Los obstáculos para dicha implementación son todavía muchos. Sin embargo, ya existen muchos ejemplos de las grandes ventajas que supone en comparación con métodos anteriores. Esto es, sobre todo, porque con una sola determinación podemos obtener simultáneamente información epidemiológica del microorganismo causante, así como de su perfil de resistencias, si bien estas ventajas están más o menos desarrolladas según el patógeno considerado. En esta revisión se repasan varios ejemplos…

0301 basic medicineMicrobiology (medical)GenomeComputer scienceDiagnósticoResistance030106 microbiologyResistenciasComputational biologyClinical Practice03 medical and health sciencesVigilancie0302 clinical medicineSecuenciación masivaEpimediologyNext generation sequencingVigilanciaDiagnosisEpidemiologíaRoutine clinical practiceGenomic information030212 general & internal medicineGenomaEnfermedades Infecciosas y Microbiología Clínica
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The first wave of the Spanish COVID-19 epidemic was associated with early introductions and fast spread of a dominating genetic variant

2020

The COVID-19 pandemic has shaken the world since the beginning of 2020. Spain is among the European countries with the highest incidence of the disease during the first pandemic wave. We established a multidisciplinar consortium to monitor and study the evolution of the epidemic, with the aim of contributing to decision making and stopping rapid spreading across the country. We present the results for 2170 sequences from the first wave of the SARS-Cov-2 epidemic in Spain and representing 12% of diagnosed cases until 14th March. This effort allows us to document at least 500 initial introductions, between early February-March from multiple international sources. Importantly, we document the …

0303 health sciences03 medical and health sciences2019-20 coronavirus outbreak0302 clinical medicineGeographyCoronavirus disease 2019 (COVID-19)Research councilSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Genetic variantsLibrary science030212 general & internal medicine030304 developmental biology3. Good health
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