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showing 10 items of 404 documents

Ontology-based cooperation of information systems : contributions to database-to-ontology mapping and XML-to-ontology mapping

2010

This thesis treats the area of ontology-based cooperation of information systems. We propose a global architecture called OWSCIS that is based on ontologies and web-services for the cooperation of distributed heterogeneous information systems. In this thesis, we focus on the problem of connecting the local information sources to the local ontologies within OWSCIS architecture. This problem is articulated by three main axes: 1) the creation of the local ontology from the local information sources, 2) the mapping of local information sources to an existing local ontology, and 3) the translation of queries over the local ontologies into queries over local information sources.

Mise en correspondanceSqlSparqlTraduction de requêtes[INFO.INFO-OH]Computer Science [cs]/Other [cs.OH]Bases de donnéesXqueryXml[INFO.INFO-OH] Computer Science [cs]/Other [cs.OH]Systèmes d'informationOntologies[ INFO.INFO-OH ] Computer Science [cs]/Other [cs.OH]No english keywordsOwl
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Carthage's military installations of the First Punic War on Monte Pellegrino (Palermo)

2019

The excavation in the park of Villa Belmonte (Monte Pellegrino, Palermo) has brought to light several warehouses, made with a “pseudo-frame” technique, probably with a straw roof, used for the storage of foodstuffs, given the large quantity of Punic-type amphorae found in situ, datable to around the middle of the third century BC. In addition, a section of road - about 3 m wide that proceeds in the direction of WNW- ESE, consisting of two layers of use - has been intercepted. We believe to have tracked down part of a strategic/military station used by the Carthaginian army during the crucial years of the First Punic War.

Monte Pellegrino (Palermo) Carthaginian military station First Punic War Punic amphorae petrographyanfore punicheprima guerra punicaMonte Pellegrino (Palermo)lcsh:Archaeologylcsh:CC1-960petrografiaMonte Pellegrino (Palermo) Postazione cartaginese prima guerra punica anfore puniche petrografiaPostazione cartagineseParole chiave: Monte Pellegrino (Palermo) Postazione cartaginese prima guerra punica anfore puniche petrografia. Keywords: Monte Pellegrino (Palermo) Carthaginian military station First Punic War Punic amphorae petrography.Settore GEO/09 -Georis. Miner.e Appl.Mineral.-Petrogr. per l'Ambi.ed i B.Cult.
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Spatial coherence and potential predictability of intraseasonal descriptors of the rainy season in Soudano-Sahelian Africa : application to the pearl…

2010

The aim of this thesis is twofold : (i) fill a lack of knowledge about the spatial coherence and seasonal predictability of the intraseasonal characteristics (ISC) of the soudano-sahelian rainy season. These ISC are the seasonal rainfall amount (S), the daily rainfall frequency > 1 mm (O), the daily rainfall mean intensity (I), the dates of the onset and withdrawal of the rainy season, the mean length of the dry (LDS) and/or wet spells (LWS) ; (ii) document the climate-agriculture relationship over the Niamey area based on the millet crop example.From FRIEND-AOC daily rainfall records (1950-2000) for a 136 stations-network located in Senegal, Mali, Burkina-Faso and Niger, the spatial cohere…

Mousson africaine[ SHS.HIST ] Humanities and Social Sciences/HistoryDescripteurs intrasaisonniers (DIS)MilSahel[SHS.HIST] Humanities and Social Sciences/HistoryNo english keywordsDates de semis[SHS.HIST]Humanities and Social Sciences/HistorySarra-hPrévisibilité potentielleCohérence spatialeDémarrage agronomique de la saison des pluies
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Eresus kollari (Araneae: Eresidae) calls for heathland management

2011

Northwest Europe’s largest heather-dominated sandy habitats are located in the nature reserve Lu¨neburgerHeide, Germany. Yet, even these appear to be losing their ability to support some of their stenotopic species such as theladybird spider, Eresus kollari Rossi 1846, and are thus becoming increasingly important for the preservation of thesespecies. The habitat requirements of this endangered spider species were investigated in order to obtain data that will helpstabilize the last remnants of the species’ population in northwest Germany. Several heathland habitats were surveyed bypitfall trapping during the mate-search period of the males. Two statistical methods were applied: logistic reg…

Nature reserveCallunaBiomass (ecology)education.field_of_studySpiderConservation managementEcology/dk/atira/pure/core/keywords/559922418PopulationEndangered speciesaction planBiologyEresus kollaribiology.organism_classificationhabitat modelingEcosystems ResearchHabitatInsect ScienceInstitut für Geowissenschaftenchoppering/dk/atira/pure/core/keywords/biologyeducationBiologyburning
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Comparison of HapMap and 1000 genomes reference panels in a large-scale genome-wide association study

2017

An increasing number of genome-wide association (GWA) studies are now using the higher resolution 1000 Genomes Project reference panel (1000G) for imputation, with the expectation that 1000G imputation will lead to the discovery of additional associated loci when compared to HapMap imputation. In order to assess the improvement of 1000G over HapMap imputation in identifying associated loci, we compared the results of GWA studies of circulating fibrinogen based on the two reference panels. Using both HapMap and 1000G imputation we performed a meta-analysis of 22 studies comprising the same 91,953 individuals. We identified six additional signals using 1000G imputation, while 29 loci were ass…

Netherlands Twin Register (NTR)0301 basic medicineGlycobiologySocial Scienceslcsh:MedicineGenome-wide association study030105 genetics & heredityBiochemistryMathematical and Statistical TechniquesSociologyCell SignalingConsortiaGENETIC-VARIANTSMedicine and Health SciencesIMPUTATIONInternational HapMap Projectlcsh:ScienceGeneticsMultidisciplinaryCOMMON VARIANTSGenomicsMultidisciplinary SciencesINSIGHTSCARDIOVASCULAR-DISEASEPhysical SciencessymbolsScience & Technology - Other TopicsHealth Services ResearchGenomic Signal ProcessingStatistics (Mathematics)Research ArticleSignal TransductionGenotypingSUSCEPTIBILITY LOCIGeneral Science & TechnologyBIOLOGYSingle-nucleotide polymorphismGenomicsHapMap ProjectComputational biologyPRESSUREBiologyResearch and Analysis Methods03 medical and health sciencessymbols.namesakeMD MultidisciplinaryGenome-Wide Association StudiesGeneticsJournal Article/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansStatistical Methods1000 Genomes ProjectMolecular Biology TechniquesMolecular BiologyMETAANALYSISGlycoproteinsScience & Technologylcsh:RHuman GenomeCONSORTIUMBiology and Life SciencesComputational BiologyFibrinogenHuman GeneticsCell BiologyComparative GenomicsGenome AnalysisHealth Care030104 developmental biologyBonferroni correctionlcsh:QHaplotype estimationMathematicsImputation (genetics)Meta-AnalysisGenome-Wide Association Study
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

2018

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generat…

Netherlands Twin Register (NTR)0301 basic medicineMajor Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics ConsortiumBipolar DisorderSAMPLEMedicine (miscellaneous)Pedigree chartDisease0302 clinical medicineSCHIZOPHRENIA2.1 Biological and endogenous factorsMedicineAetiologyANTICIPATIONlcsh:QH301-705.5Psychiatry0303 health sciencesDepressionASSOCIATIONSerious Mental IllnessPeer reviewMental HealthSchizophrenia/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMajor depressive disorderGeneral Agricultural and Biological SciencesEngineering sciences. Technologymedicine.medical_specialtyContext (language use)ArticlePsykiatriGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAGESDG 3 - Good Health and Well-beingddc:570Behavioral and Social Science/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsPLINKGenetic TestingBipolar disorderPsychiatryBiology030304 developmental biologybusiness.industryPreventionHuman GenomeAssortative matingmedicine.diseaseBrain Disorders030104 developmental biologyMoodlcsh:Biology (General)Mood disordersAnticipation (genetics)ONSETHuman medicinebusiness030217 neurology & neurosurgery
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A Genome-Wide Screen for Interactions Reveals a New Locus on 4p15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol

2011

Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ∼25% of the heritability of the phenotypes. To date, no unbiased screen for gene–environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on …

Netherlands Twin Register (NTR)Adipose Tissue/metabolismAdipose Tissue/metabolism; Body Fat Distribution; Cadherins/genetics; Cholesterol/blood; Cholesterol/genetics; Chromosome Mapping; Chromosomes Human Pair 4/genetics; European Continental Ancestry Group/genetics; Genome-Wide Association Study; Genotype; Humans; Lipids/blood; Lipids/genetics; Lipoproteins/blood; Lipoproteins/genetics; Phenotype; Polymorphism Single Nucleotide; Quantitative Trait Loci/genetics; Risk Factors; Triglycerides/blood; Triglycerides/genetics; Waist-Hip RatioGenome-wide association study0302 clinical medicineGenetics(clinical)AetiologyEuropean Continental Ancestry Group/genetics0303 health scienceseducation.field_of_studyta3141ta3142ASSOCIATIONCadherinsLipids3. Good healthTriglycerides/bloodCholesterolAdipose TissueDENSITY-LIPOPROTEIN CHOLESTEROLTRIGLYCERIDEChromosomes Human Pair 4SMOKING/dk/atira/pure/subjectarea/asjc/1100/1105Human/dk/atira/pure/subjectarea/asjc/1300/1311/dk/atira/pure/subjectarea/asjc/1300/1312GenotypeLipoproteinseducationEuropean Continental Ancestry GroupQuantitative Trait LociLocus (genetics)Cholesterol/bloodWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingClinical ResearchGenome-Wide Association StudiesGeneticsHumansPolymorphismeducationBiologyMolecular BiologyPOLYMORPHISMSEcology Evolution Behavior and Systematics0604 GeneticsHDL CHOLESTEROLScience & TechnologyCadherins/geneticsChromosomes Human Pair 4/geneticsQuantitative Trait Loci/geneticsDensity-lipoprotein cholesterol; HDL chloesterol; Association; Gene; Smoking; Plasma; Triglyeride; Obesity; Lipids; PolymorphismsDevelopmental BiologyCancer Research030204 cardiovascular system & hematologyWaist–hip ratioRisk FactorsGenotype2.1 Biological and endogenous factorsBody Fat DistributionGENETICS & HEREDITYGenetics (clinical)GeneticsPLASMAChromosome MappingSingle NucleotideENGAGE ConsortiumPair 4/geneticsPhenotypePair 4OBESITY/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being/dk/atira/pure/subjectarea/asjc/1300/1306Life Sciences & BiomedicineResearch ArticleLIPIDSlcsh:QH426-470PopulationQuantitative trait locusBiologyPolymorphism Single NucleotideChromosomes/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Lipoproteins/bloodgene ; waist-to-hip ratio ; cholesterolAlleleTriglycerides030304 developmental biologyWhitesLipids/bloodWaist-Hip RatioHuman GenomeHuman Genetics/dk/atira/pure/subjectarea/asjc/2700/2716HeritabilityGENEProtocadherinslcsh:Genetics3111 BiomedicineGenome-Wide Association StudyPLoS Genetics
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Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

2020

AbstractEating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa (BN) and problem alcohol use (genetic correlation [rg], twin-based=0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge-eating, AN without binge-eating, and a BN factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], …

Netherlands Twin Register (NTR)Alcoholism/geneticsSchizophrenia/genetics[SDV]Life Sciences [q-bio][SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthMedizinMedicine (miscellaneous)Genome-wide association studyAlcohol use disorderAnorexia nervosaLinkage Disequilibriumddc:616.89[SCCO]Cognitive science0302 clinical medicineRisk FactorsTobacco Use Disorder/geneticsSubstance-Related Disorders/genetics0303 health sciences[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyFactors de risc en les malaltiesBulimia nervosaFeeding and Eating Disorders/geneticseating disorders; genetic correlation; substance useTobacco Use Disordergenetic correlation3. Good healthFenotip[SDV] Life Sciences [q-bio]Psychiatry and Mental healthAlcoholismEating disordersPhenotypeSchizophreniaDrinking of alcoholic beverageseating disorderConsum d'alcoholMajor depressive disorder/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingmedicine.symptomDepressive Disorder Major/geneticseating disorders genetic correlation substance useClinical psychologySubstance abuseRisk factors in diseasesSubstance-Related Disorderssubstance useeating disordersPolymorphism Single NucleotideArticleFeeding and Eating Disorders03 medical and health sciencesSDG 3 - Good Health and Well-beingmental disorders/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsmedicineHumansTrastorns de la conducta alimentària030304 developmental biologyGenetic associationPharmacologyeating disorders ; genetic correlation ; substance useDepressive Disorder MajorBinge eatingbusiness.industry[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/Neurosciencesubstance use.[SCCO] Cognitive sciencemedicine.diseaseComorbidityTwin study030227 psychiatryAbús de substàncies[SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthSchizophreniabusinessGenètica030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association Study
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Defining the role of common variation in the genomic and biological architecture of adult human height

2014

Item does not contain fulltext Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes…

Netherlands Twin Register (NTR)BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAElectronic Medical Records and Genomics (eMEMERGEGE) ConsortiumMedizinGenome-wide association studyAdult; Analysis of Variance; Body Height/genetics; European Continental Ancestry Group/genetics; Genetic Variation/genetics; Genetics Population; Genome-Wide Association Study/methods; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism Single Nucleotide/geneticsheritability0302 clinical medicineGenome-wideEuropean Continental Ancestry Group/geneticsSNPSOligonucleotide Array Sequence AnalysissnpsGenetics & Heredityddc:616GeneticsMedical And Health Sciences0303 health scienceseducation.field_of_studyvariantsBody Height/geneticsGENETIC-VARIATIONBiological SciencesPolymorphism Single Nucleotide/geneticsGenetic Variation/geneticsUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Genome-Wide Association Study/methodsbody heightgenetic-variationLife Sciences & BiomedicineSingle Nucleotide/geneticsHumanAdultEuropean Continental Ancestry GroupPopulationPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleWhite PeopleNOcomplex traits03 medical and health sciencesGenetic variationheritability adult height/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsHumansPolymorphismHuman heightPAGEGE ConsortiumeducationGeneVLAG030304 developmental biologyGlobal NutritionWereldvoedingAnalysis of VarianceGenome-wide; heritability; variantsgenome-wide association studyScience & TechnologyWhitesOligonucleotide Array Sequence AnalysiMUTATIONSCOMPLEX TRAITSta1184Klinisk medicinpopulation geneticsGenetic VariationHeritabilityta3121mutationsGenetic architectureBody HeightGenetics Populationgenetic variationMIGen ConsortiumInflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5]Clinical Medicine030217 neurology & neurosurgeryheightLifeLines Cohort StudyDevelopmental BiologyGenome-Wide Association StudyNature genetics
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Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels

2011

Background— C-reactive protein (CRP) is a heritable marker of chronic inflammation that is strongly associated with cardiovascular disease. We sought to identify genetic variants that are associated with CRP levels. Methods and Results— We performed a genome-wide association analysis of CRP in 66 185 participants from 15 population-based studies. We sought replication for the genome-wide significant and suggestive loci in a replication panel comprising 16 540 individuals from 10 independent studies. We found 18 genome-wide significant loci, and we provided evidence of replication for 8 of them. Our results confirm 7 previously known loci and introduce 11 novel loci that are implicated in p…

Netherlands Twin Register (NTR)Genome-wide association studyDisease030204 cardiovascular system & hematology0302 clinical medicineDESIGNRisk FactorsFRAMINGHAMNETHERLANDS TWIN REGISTERgeneticsCRP GENE2. Zero hungerGenetics0303 health scienceseducation.field_of_studybiologyCOMMON VARIANTS3. Good healthHNF1AC-Reactive Proteinmyocardial infarctionCardiovascular DiseasesMeta-analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCardiology and Cardiovascular MedicineVasculitisPopulationArticle03 medical and health sciencesINFLAMMATIONSDG 3 - Good Health and Well-beingPhysiology (medical)/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineHumansGenetic Predisposition to DiseaseCORONARY-HEART-DISEASEALPHA-GENEeducation030304 developmental biologyGenetic associationEPIDEMIOLOGIC APPLICATIONSgenome-wide association studyC-reactive proteinmedicine.diseasemeta-analysisinflammationbiology.proteinGENETICALLY ISOLATED POPULATIONMetabolic syndromeBiomarkers
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