0000000000109950

AUTHOR

M. J. Owen

showing 3 related works from this author

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

2019

Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural ne…

Male/692/4020/1503/257/1402GenotypeGenotyping TechniquesLOCI/45/43lcsh:MedicinePolymorphism Single NucleotideCrohn's disease genetics genome wide associationArticleDeep LearningCrohn DiseaseINDEL MutationGenetics researchHumansgeneticsGenetic Predisposition to Disease/129lcsh:ScienceAllelesScience & Technologygenome wide associationRISK PREDICTION/45Models Geneticlcsh:RDecision Trees/692/308/2056ASSOCIATIONMultidisciplinary SciencesCrohn's diseaseLogistic ModelsNonlinear DynamicsROC CurveArea Under CurveScience & Technology - Other Topicslcsh:QFemaleNeural Networks ComputerINFLAMMATORY-BOWEL-DISEASEGenome-Wide Association StudyScientific Reports
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Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

2013

Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locu…

MaleApolipoprotein Eepidemiology [Alzheimer Disease]SORL1Medizingenetics [Alzheimer Disease]Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticlePICALMCohort StudiesAlzheimer Diseaseddc:570PSEN2GeneticsmedicineHumansGenetic Predisposition to DiseaseAge of OnsetBiologyAgedGenetic associationAged 80 and overGeneticsMiddle Agedmedicine.diseaseGenetic LociCase-Control StudiesFemaleHuman medicineAlzheimer's diseasestatistics & numerical data [Genome-Wide Association Study]Genome-Wide Association StudyNature Genetics
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