Search results for " statistics"

showing 10 items of 1891 documents

Assessing statistical significance in multivariable genome wide association analysis

2016

Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high significance threshold needed to correct for multiple testing, greatly decreases the power of GWAS. Results: We propose a procedure in which all the SNPs are analyzed in a multiple generalized linear model, and we show its use for extremely high-dimensional datasets. Our method yields P-values for assessing significance of single SNPs or groups of SNPs while controlling for all other SNPs and the family wise error rate (FWER). Thus, our method tests whe…

0301 basic medicineStatistics and Probability1303 BiochemistryGenotypeOperations researchLibrary sciencePolymorphism Single NucleotideBiochemistryGerman03 medical and health sciences10007 Department of EconomicsPolitical scienceGenome-Wide Association Analysis1312 Molecular Biology1706 Computer Science ApplicationsCluster AnalysisHumansComputer Simulation2613 Statistics and ProbabilityMolecular BiologyEuropean researchGenetics and Population AnalysisComputational BiologyReproducibility of ResultsOriginal Paperslanguage.human_languageComputer Science Applications330 EconomicsComputational MathematicsPhenotype030104 developmental biologyComputational Theory and MathematicsLinear Modelslanguage2605 Computational MathematicsGenome-Wide Association Study1703 Computational Theory and Mathematics
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Two-Stage Bayesian Approach for GWAS With Known Genealogy

2019

Genome-wide association studies (GWAS) aim to assess relationships between single nucleotide polymorphisms (SNPs) and diseases. They are one of the most popular problems in genetics, and have some peculiarities given the large number of SNPs compared to the number of subjects in the study. Individuals might not be independent, especially in animal breeding studies or genetic diseases in isolated populations with highly inbred individuals. We propose a family-based GWAS model in a two-stage approach comprising a dimension reduction and a subsequent model selection. The first stage, in which the genetic relatedness between the subjects is taken into account, selects the promising SNPs. The se…

0301 basic medicineStatistics and ProbabilityBayesian probabilityPopulationSingle-nucleotide polymorphismGenome-wide association studyComputational biologyEstadísticaBiologyKinship coefficientModel selection01 natural sciencesBeta-thalassemia010104 statistics & probability03 medical and health sciencesBeta-thalassemia disorderModelsRobust prior distributionRegularizationDiscrete Mathematics and Combinatorics0101 mathematicsStage (cooking)Genetic associationGenome-wide associationModel selectionVariable-selectionProbability and statisticsBayes factorRegressionBayes factor030104 developmental biologyPhenotypeStatistics Probability and UncertaintyGaussian Markov random field
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Stagewise pseudo-value regression for time-varying effects on the cumulative incidence

2015

In a competing risks setting, the cumulative incidence of an event of interest describes the absolute risk for this event as a function of time. For regression analysis, one can either choose to model all competing events by separate cause-specific hazard models or directly model the association between covariates and the cumulative incidence of one of the events. With a suitable link function, direct regression models allow for a straightforward interpretation of covariate effects on the cumulative incidence. In practice, where data can be right-censored, these regression models are implemented using a pseudo-value approach. For a grid of time points, the possibly unobserved binary event s…

0301 basic medicineStatistics and ProbabilityCarcinoma HepatocellularTime FactorsEpidemiologyComputer scienceFeature selectionBiostatistics01 natural sciences010104 statistics & probability03 medical and health sciencesRisk FactorsStatisticsCovariateEconometricsHumansComputer SimulationCumulative incidenceRegistries0101 mathematicsEvent (probability theory)Models StatisticalIncidenceLiver NeoplasmsAbsolute risk reductionRegression analysisRegression030104 developmental biologyRegression AnalysisJackknife resamplingAlgorithmsStatistics in Medicine
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Partitioned learning of deep Boltzmann machines for SNP data.

2016

Abstract Motivation Learning the joint distributions of measurements, and in particular identification of an appropriate low-dimensional manifold, has been found to be a powerful ingredient of deep leaning approaches. Yet, such approaches have hardly been applied to single nucleotide polymorphism (SNP) data, probably due to the high number of features typically exceeding the number of studied individuals. Results After a brief overview of how deep Boltzmann machines (DBMs), a deep learning approach, can be adapted to SNP data in principle, we specifically present a way to alleviate the dimensionality problem by partitioned learning. We propose a sparse regression approach to coarsely screen…

0301 basic medicineStatistics and ProbabilityComputer scienceMachine learningcomputer.software_genre01 natural sciencesBiochemistryPolymorphism Single NucleotideMachine Learning010104 statistics & probability03 medical and health sciencessymbols.namesakeJoint probability distributionHumans0101 mathematicsMolecular BiologyStatistical hypothesis testingArtificial neural networkbusiness.industryGene Expression Regulation LeukemicDeep learningUnivariateComputational BiologyManifoldComputer Science ApplicationsData setComputational Mathematics030104 developmental biologyComputingMethodologies_PATTERNRECOGNITIONComputational Theory and MathematicsLeukemia MyeloidBoltzmann constantsymbolsData miningArtificial intelligencebusinesscomputerSoftwareCurse of dimensionalityBioinformatics (Oxford, England)
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Gene-based and semantic structure of the Gene Ontology as a complex network

2012

The last decade has seen the advent and consolidation of ontology based tools for the identification and biological interpretation of classes of genes, such as the Gene Ontology. The information accumulated time-by-time and included in the GO is encoded in the definition of terms and in the setting up of semantic relations amongst terms. This approach might be usefully complemented by a bottom-up approach based on the knowledge of relationships amongst genes. To this end, we investigate the Gene Ontology from a complex network perspective. We consider the semantic network of terms naturally associated with the semantic relationships provided by the Gene Ontology consortium and a gene-based …

0301 basic medicineStatistics and ProbabilityFOS: Computer and information sciencesPhysics - Physics and SocietyComplex systemComputer scienceMolecular Networks (q-bio.MN)Complex systemFOS: Physical sciencesNetworkCondensed Matter PhysicPhysics and Society (physics.soc-ph)computer.software_genreQuantitative Biology - Quantitative MethodsStatistics - ApplicationsGeneSemantic network03 medical and health sciencesSemantic similarityQuantitative Biology - Molecular NetworksApplications (stat.AP)GeneQuantitative Methods (q-bio.QM)Community detectionGene ontologybusiness.industryOntologyOntology-based data integrationComplex networkCondensed Matter PhysicsBipartite system030104 developmental biologyBipartite system; Community detection; Complex systems; Genes; Networks; Ontology; Condensed Matter Physics; Statistics and ProbabilityFOS: Biological sciencesOntologyWeighted networkData miningArtificial intelligenceComputingMethodologies_GENERALbusinesscomputerNatural language processing
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L1-Penalized Censored Gaussian Graphical Model

2018

Graphical lasso is one of the most used estimators for inferring genetic networks. Despite its diffusion, there are several fields in applied research where the limits of detection of modern measurement technologies make the use of this estimator theoretically unfounded, even when the assumption of a multivariate Gaussian distribution is satisfied. Typical examples are data generated by polymerase chain reactions and flow cytometer. The combination of censoring and high-dimensionality make inference of the underlying genetic networks from these data very challenging. In this article, we propose an $\ell_1$-penalized Gaussian graphical model for censored data and derive two EM-like algorithm…

0301 basic medicineStatistics and ProbabilityFOS: Computer and information sciencesgraphical lassoComputer scienceGaussianNormal DistributionInferenceMultivariate normal distribution01 natural sciencesMethodology (stat.ME)010104 statistics & probability03 medical and health sciencessymbols.namesakeGraphical LassoExpectation–maximization algorithmHumansComputer SimulationGene Regulatory NetworksGraphical model0101 mathematicsStatistics - MethodologyEstimation theoryReverse Transcriptase Polymerase Chain ReactionEstimatorexpectation-maximization algorithmGeneral MedicineCensoring (statistics)High-dimensional datahigh-dimensional dataGaussian graphical model030104 developmental biologysymbolscensored dataCensored dataExpectation-Maximization algorithmStatistics Probability and UncertaintySettore SECS-S/01 - StatisticaAlgorithmAlgorithms
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Model selection for factorial Gaussian graphical models with an application to dynamic regulatory networks.

2016

Abstract Factorial Gaussian graphical Models (fGGMs) have recently been proposed for inferring dynamic gene regulatory networks from genomic high-throughput data. In the search for true regulatory relationships amongst the vast space of possible networks, these models allow the imposition of certain restrictions on the dynamic nature of these relationships, such as Markov dependencies of low order – some entries of the precision matrix are a priori zeros – or equal dependency strengths across time lags – some entries of the precision matrix are assumed to be equal. The precision matrix is then estimated by l 1-penalized maximum likelihood, imposing a further constraint on the absolute value…

0301 basic medicineStatistics and ProbabilityFactorialDependency (UML)Computer scienceGaussianNormal Distributionpenalized inferencesparse networkscomputer.software_genreMachine learning01 natural sciencesNormal distribution010104 statistics & probability03 medical and health sciencessymbols.namesakeSparse networksGeneticsComputer SimulationGene Regulatory NetworksGraphical model0101 mathematicsgene-regulatory systemMolecular BiologyProbabilityMarkov chainModels GeneticPenalized inferencebusiness.industryModel selectiongraphical modelGene-regulatory systemsComputational Mathematics030104 developmental biologysymbolsA priori and a posterioriData miningArtificial intelligenceGraphical modelsSettore SECS-S/01 - StatisticabusinesscomputerNeisseriaAlgorithmsStatistical applications in genetics and molecular biology
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Prioritizing covariates in the planning of future studies in the meta-analytic framework

2016

Science can be seen as a sequential process where each new study augments evidence to the existing knowledge. To have the best prospects to make an impact in this process, a new study should be designed optimally taking into account the previous studies and other prior information. We propose a formal approach for the covariate prioritization, i.e., the decision about the covariates to be measured in a new study. The decision criteria can be based on conditional power, change of the p-value, change in lower confidence limit, Kullback-Leibler divergence, Bayes factors, Bayesian false discovery rate or difference between prior and posterior expectation. The criteria can be also used for decis…

0301 basic medicineStatistics and ProbabilityFalse discovery rateComputer scienceBayesian probabilityBayes factorGeneral MedicineMultiple-criteria decision analysis01 natural sciencesConfidence interval010104 statistics & probability03 medical and health sciences030104 developmental biologySample size determinationCovariateEconometrics0101 mathematicsStatistics Probability and UncertaintyDivergence (statistics)Biometrical Journal
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A generalization of Kingman's model of selection and mutation and the Lenski experiment.

2017

Kingman’s model of selection and mutation studies the limit type value distribution in an asexual population of discrete generations and infinite size undergoing selection and mutation. This paper generalizes the model to analyze the long-term evolution of Escherichia. coli in Lenski experiment. Weak assumptions for fitness functions are proposed and the mutation mechanism is the same as in Kingman’s model. General macroscopic epistasis are designable through fitness functions. Convergence to the unique limit type distribution is obtained.

0301 basic medicineStatistics and ProbabilityGeneralizationPopulationBiology01 natural sciencesModels BiologicalGeneral Biochemistry Genetics and Molecular Biology010104 statistics & probability03 medical and health sciencesStatisticsEscherichia coliApplied mathematicsQuantitative Biology::Populations and EvolutionLimit (mathematics)0101 mathematicsSelection GeneticeducationSelection (genetic algorithm)education.field_of_studyFitness functionGeneral Immunology and MicrobiologyApplied MathematicsGeneral MedicineQuantitative Biology::GenomicsBiological Evolution030104 developmental biologyDistribution (mathematics)Modeling and SimulationMutation (genetic algorithm)MutationEpistasisGeneral Agricultural and Biological SciencesMathematical biosciences
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Variance component analysis to assess protein quantification in biomarker discovery. Application to MALDI-TOF mass spectrometry.

2017

International audience; Controlling the technological variability on an analytical chain is critical for biomarker discovery. The sources of technological variability should be modeled, which calls for specific experimental design, signal processing, and statistical analysis. Furthermore, with unbalanced data, the various components of variability cannot be estimated with the sequential or adjusted sums of squares of usual software programs. We propose a novel approach to variance component analysis with application to the matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) technology and use this approach for protein quantification by a classical signal processing algori…

0301 basic medicineStatistics and ProbabilityMALDI-TOFexperimental designBiometryprotein quantificationQuantitative proteomicsVariance component analysis[ CHIM ] Chemical Sciences01 natural sciencesSignaltechnological variability010104 statistics & probability03 medical and health sciencesstatistical analysis[INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing[CHIM.ANAL]Chemical Sciences/Analytical chemistryComponent (UML)[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]biomarker discoverysum of squares type0101 mathematicsBiomarker discoverysignal processingMathematicsSignal processingAnalysis of Variance[ PHYS ] Physics [physics]Noise (signal processing)ProteinsGeneral MedicineVariance (accounting)[SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]030104 developmental biologySpectrometry Mass Matrix-Assisted Laser Desorption-IonizationLinear Modelsvariance components[ CHIM.ANAL ] Chemical Sciences/Analytical chemistryStatistics Probability and UncertaintyBiological systemAlgorithmsBiomarkersBiometrical journal. Biometrische Zeitschrift
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