0000000000419127

AUTHOR

Arcadi Navarro

showing 5 related works from this author

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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The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.

0106 biological sciencesConservation geneticsMalegenotype phenotype correlationGorillaComputingMilieux_LEGALASPECTSOFCOMPUTINGarginineGenoma humà01 natural sciencesOculocutaneous albinism type 4single nucleotide polymorphismAlbinismegenetic variabilityGorillaInbreedinggenetic conservationGenetics0303 health sciencesGenomebiologyarticlecopy number variationHigh-Throughput Nucleotide SequencingSLC45A2 geneGenomicszygosityOculocutaneous albinismFloquet de neu (Goril·la)AlbinismFemaleBiotechnologyamino acid substitutionResearch ArticleSLC45A2Gorilla gorilla gorillaHeterozygoteAlbinismMolecular Sequence Datacomparative genomic hybridizationgene sequenceConservation010603 evolutionary biology03 medical and health sciencesWestern lowland gorillabiology.animalmedicineGeneticsheterozygosityAnimalsAmino Acid Sequencegene030304 developmental biologygene identificationWhole genome sequencingnonhumanGorilla gorillaMembrane Transport ProteinsSequence Analysis DNA15. Life on landbiology.organism_classificationmedicine.diseaseGenòmicaData_GENERALMutationbiology.proteinGenèticaoculocutaneous albinismglycineMicrosatellite RepeatsBMC Genomics
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Multiplicity- and dependency-adjusted p-values for control of the family-wise error rate

2016

Abstract Under the multiple testing framework, we propose the multiplicity- and dependency-adjustment method (MADAM) which transforms test statistics into adjusted p -values for control of the family-wise error rate. For demonstration, we apply the MADAM to data from a genetic association study.

0301 basic medicineStatistics and ProbabilityWord error rateMultiplicity (mathematics)Familywise error rateMadam01 natural sciences010104 statistics & probability03 medical and health sciences030104 developmental biologyStatisticsMultiple comparisons problemŠidák correctionPer-comparison error rate0101 mathematicsStatistics Probability and UncertaintyMathematicsStatistical hypothesis testingStatistics & Probability Letters
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Combining multiple hypothesis testing with machine learning increases the statistical power of genome-wide association studies

2016

Mieth, Bettina et al.

0301 basic medicineStatistical methodsComputer scienceGenome-wide association studyMachine learningcomputer.software_genreGenome-wide association studiesStatistical powerArticle[INFO.INFO-AI]Computer Science [cs]/Artificial Intelligence [cs.AI]Set (abstract data type)03 medical and health sciences[INFO.INFO-LG]Computer Science [cs]/Machine Learning [cs.LG][MATH.MATH-ST]Mathematics [math]/Statistics [math.ST]10007 Department of EconomicsStatistical significanceReplication (statistics)genomeStatistical hypothesis testingGenetic association1000 MultidisciplinaryMultidisciplinarybusiness.industryComputational scienceInstitut für Mathematik330 EconomicsSupport vector machine030104 developmental biologyMultiple comparisons problemwide association studiesstatistical methodsArtificial intelligencebusinesscomputer
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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic inf…

2018

AbstractHumans vary substantially in their willingness to take risks. In a combined sample of over one million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. We identified 611 approximately independent genetic loci associated with at least one of our phenotypes, including 124 with general risk tolerance. We report evidence of substantial shared genetic influences across general risk tolerance and risky behaviors: 72 of the 124 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is moderately to stro…

Genetics0303 health sciencesGabaergic neurotransmissionSingle-nucleotide polymorphismGenome-wide association studyBiologyPhenotype03 medical and health sciences0302 clinical medicineSNPGene030217 neurology & neurosurgery030304 developmental biologyGenetic association
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