Search results for " WGS"

showing 3 items of 3 documents

Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

2020

8 páginas, 3 figuras

Infecções Respiratórias0301 basic medicineMESH: Coronavirus InfectionsEpidemiology[SDV]Life Sciences [q-bio]Distribution (economics)WastewaterMESH: Base SequenceSevere Acute Respiratory SyndromeMESH: World Health OrganizationPandemicMESH: CoronavirusMESH: COVID-19SequencingViralCladeNomenclatureGenomebiologyNomenclatureCOVID-19; Europe; NGS; SARS-CoV-2; WGS; nomenclature; sequencing; Base Sequence; Betacoronavirus; COVID-19; Coronavirus; Coronavirus Infections; Europe; Genome Viral; Humans; Phylogeography; Pneumonia Viral; RNA Viral; RNA-Dependent RNA Polymerase; SARS-CoV-2; Severe Acute Respiratory Syndrome; Spatio-Temporal Analysis; World Health Organization; PandemicsC500sequencingEuropean region3. Good healthEuropePhylogeographyGeographyMESH: PhylogeographyMESH: RNA-Dependent RNA PolymeraseMESH: RNA ViralNGSMESH: BetacoronavirusRNA ViralSpatio-Temporal AnalysinomenclatureMESH: Genome ViralCoronavirus InfectionsCartographyHumanBioquímicaMESH: PandemicsSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)CoronaviruPneumonia Viral030106 microbiologyGenome ViralWorld Health OrganizationCOVID-19 ; Europe ; NGS ; SARS-CoV-2 ; WGS ; nomenclature ; sequencing03 medical and health sciencesBetacoronavirusMESH: Spatio-Temporal AnalysisSpatio-Temporal AnalysisMESH: Severe Acute Respiratory SyndromeVirologyHumansMESH: SARS-CoV-2PandemicsWhole genome sequencingMESH: HumansWhole Genome SequencingBetacoronaviruBase SequenceCoronavirus Infectionbusiness.industrySARS-CoV-2Public Health Environmental and Occupational HealthCOVID-19Pneumoniabiology.organism_classificationRNA-Dependent RNA PolymeraseB900Coronavirus030104 developmental biologyMESH: Pneumonia ViralRNASARS_CoV-23111 BiomedicineMESH: EuropeHuman medicinebusinessBetacoronavirusWGSEurosurveillance
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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