Search results for "IMPUTATION"

showing 10 items of 57 documents

Genome- wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels

2017

International audience; Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. While elevated plasma levels of FXI have been associated with venous thromboembolism and ischemic stroke, its deficiency is associated with mild bleeding. We aimed to determine novel genetic and post-transcriptional plasma FXI regulators.We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analysed and further replicated in 2,045 individuals from…

Male0301 basic medicineIn silicoReceptors Cell SurfaceSingle-nucleotide polymorphismGenome-wide association study030204 cardiovascular system & hematologyBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicine[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]GeneticsmedicineHumansComputer SimulationGene Regulatory NetworksGenetic Predisposition to Disease1000 Genomes ProjectMolecular BiologyGeneGenetics (clinical)Adaptor Proteins Signal TransducingGeneticsmedicine.diagnostic_testKininogensAssociation Studies ArticlesHaplotypeThrombosisGeneral Medicine3. Good health030104 developmental biologyGene Expression RegulationFemalePartial Thromboplastin TimeCell Adhesion MoleculesProtein Processing Post-TranslationalImputation (genetics)Genome-Wide Association StudyPartial thromboplastin time
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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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Lost to follow-up in the Norwegian mother, father and child cohort study.

2021

Background The aim of pregnancy cohorts was to understand causes and development of health and disease throughout the life course. A major challenge in cohort studies is to avoid selection bias from loss to follow-up. Objective The aim of this study was to describe what characterises drop out from the Norwegian Mother, Father and Child Cohort Study (MoBa), and provide a resource to inform the interpretation of results from analysis of cohort data. Methods We estimated loss to follow-up in subsets of participants that responded to questionnaire waves in MoBa through an eight-year period and described characteristics of participants who responded to follow-ups. Within each wave of questionnai…

MaleEpidemiologymedia_common.quotation_subjectMothersCohort StudiesFathersPregnancymedicineBirth WeightHumansImputation (statistics)Lost to follow-upChildmedia_commonSelection biasPregnancybusiness.industryNorwayInverse probability weightingmedicine.diseaseVDP::Medisinske Fag: 700::Helsefag: 800Pediatrics Perinatology and Child HealthCohortFemaleLost to Follow-UpbusinessBody mass indexCohort studyDemographyPaediatric and perinatal epidemiologyREFERENCES
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Polygenic Risk Scores and Physical Activity

2020

Supplemental digital content is available in the text.

MaleMultifactorial InheritanceEpidemiologyheritabilityNorthern finlandDISEASEhidden heritability0302 clinical medicineRisk FactorsMISSING HERITABILITYAccelerometryMedicineOrthopedics and Sports Medicine315 Sport and fitness sciencesgeneskrooniset tauditFinlandAged 80 and overeducation.field_of_studyFramingham Risk ScoreBIRTH COHORTexerciseHERITABILITYObjective measurementriskitekijätMiddle Aged3. Good healthComputingMethodologies_DOCUMENTANDTEXTPROCESSINGFemaleHEALTHgeenitutkimusBirth cohortfyysinen aktiivisuusAdultSingle variableAdolescentGenotypePopulationPhysical activityEXERCISEPhysical Therapy Sports Therapy and RehabilitationFitness TrackersGENOTYPE IMPUTATIONPolymorphism Single Nucleotideperinnöllinen alttiusYoung Adult03 medical and health sciencesHumansGENOME-WIDE ASSOCIATIONgeneeducationperinnöllisyysAgedgeenitbusiness.industryHIDDEN HERITABILITY030229 sport sciencesGENEperimäPolygenic risk scoreSelf ReportbusinessGenome-Wide Association StudyDemographyMedicine & Science in Sports & Exercise
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Treating missing data in a clinical neuropsychological dataset--data imputation.

2001

Missing data frequently reduce the applicability of clinically collected data in research requiring multivariate statistics. In data imputation, missing values are replaced by predicted values obtained from models based on auxiliary information. Our aim was to complete a clinical child neuropsychological data set containing 5.2% of missing observations. This was to be used in research requiring multivariate statistics. We compared four data imputation methods by artificially deleting some data. A real-donor imputation method which preserved the parameter estimates and which predicted the observed values with acceptable accuracy was used to complete the data set. In addressing the lack of st…

MaleMultivariate statisticsNeuropsychologyNeuropsychological Testscomputer.software_genreMissing dataData setPsychiatry and Mental healthClinical PsychologyNeuropsychology and Physiological PsychologyArts and Humanities (miscellaneous)Data Interpretation StatisticalStatisticsDevelopmental and Educational PsychologyHumansFemaleData miningImputation (statistics)PsychologyChildCognition DisorderscomputerThe Clinical neuropsychologist
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Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder

2010

Contains fulltext : 87688.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Although twin and family studies have shown attention-deficit/hyperactivity disorder (ADHD) to be highly heritable, genetic variants influencing the trait at a genome-wide significant level have yet to be identified. As prior genome-wide association studies (GWAS) have not yielded significant results, we conducted a meta-analysis of existing studies to boost statistical power. METHOD: We used data from four projects: a) the Children's Hospital of Philadelphia (CHOP); b) phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II); and d) the Pfizer-funded study from the…

Malemedicine.medical_specialtyCandidate geneAdolescentMedizinSocial SciencesGenome-wide association studySingle-nucleotide polymorphismPolymorphism Single NucleotideArticleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciences0302 clinical medicinePerception and Action [DCN 1]Developmental and Educational PsychologymedicineIMPUTATIONAttention deficit hyperactivity disorderddc:61Humansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersInternational HapMap ProjectPsychiatryChildGenetic Association Studies030304 developmental biologyGenetic associationMental Health [NCEBP 9]0303 health sciencesCOMPONENTSmedicine.disease3. Good healthPREVALENCEPsychiatry and Mental healthAttention Deficit Disorder with HyperactivityMeta-analysisChild PreschoolFemalePsychologyFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgeryImputation (genetics)Clinical psychologyGenome-Wide Association Study
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L'imputazione dei dati mancanti: l'effetto sui parametri di un Extended Logistic Rasch Model

2008

Il problema dei dati mancanti è abbastanza comune nella ricerca empirica, specialmente nelle scienze sociali in cui il tentativo di misurazione di quantità non direttamente osservabili (variabili latenti)avviene attraverso la somministrazione di test o questionari costituiti da più item. I modelli statistici finalizzati alla soluzione di tale problema richiedono, in genere, un elevato numero di osservazioni per ogni unità coinvolta nell’analisi. In un contesto multivariato il problema si amplifica, poiché nel modello sono considerati più item per ciascuna osservazione: la probabilità, quindi, di avere almeno un dato mancante non è irrilevante ed è, inoltre, crescente al crescere del numero …

Multiple Imputation Rasch Model Valutazione Qualità della Didattica ‘Taratura’ del questionarioSettore SECS-S/05 - Statistica Sociale
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Imputation Strategies for Missing Data in Environmental Time Series for An Unlucky Situation

2005

After a detailed review of the main specific solutions for treatment of missing data in environmental time series, this paper deals with the unlucky situation in which, in an hourly series, missing data immediately follow an absolutely anomalous period, for which we do not have any similar period to use for imputation. A tentative multivariate and multiple imputation is put forward and evaluated; it is based on the possibility, typical of environmental time series, to resort to correlations or physical laws that characterize relationships between air pollutants.

Multivariate statisticsAir pollutantsComputer scienceStatisticsAutoregressive–moving-average modelImputation (statistics)Missing data
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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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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

2011

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…

OncologyVital capacityPROTEINGenome-wide association studyBLOOD-PRESSUREVARIANTSPulmonary function testingPulmonary Disease Chronic Obstructive0302 clinical medicineEpidemiologyIMPUTATIONChild11 Medical and Health SciencesPOPULATIONGenetics & HeredityRISK0303 health scienceseducation.field_of_studyWOMENGENETIC-VARIATION3. Good healthRespiratory Function Testsmedicine.anatomical_structureMedical geneticsLife Sciences & BiomedicineEXPRESSIONmedicine.medical_specialtyMECOMPopulationEuropean Continental Ancestry GroupBiologyOBSTRUCTIVE PULMONARY-DISEASEArticleWhite People03 medical and health sciencesInternal medicineGeneticsmedicineHumanseducationMETAANALYSISPOLYMORPHISMS030304 developmental biologyLungScience & TechnologyMORTALITYGIANT consortiumInternational Lung Cancer Consortium06 Biological Sciences030228 respiratory systemImmunologylung; gene; gwasGenome-Wide Association StudyDevelopmental BiologyNature Genetics
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