2020
Genotyping Array Design and Data Quality Control in the Million Veteran Program
Hunter-Zinck H, Shi Y, Li M, Gorman BR, Ji SG, Sun N, Webster T, Liem A, Hsieh P, Devineni P, Karnam P, Gong X, Radhakrishnan L, Schmidt J, Assimes TL, Huang J, Pan C, Humphries D, Brophy M, Moser J, Muralidhar S, Huang GD, Przygodzki R, Concato J, Gaziano JM, Gelernter J, O’Donnell C, Hauser ER, Zhao H, O’Leary T, Program V, Tsao PS, Pyarajan S. Genotyping Array Design and Data Quality Control in the Million Veteran Program. American Journal Of Human Genetics 2020, 106: 535-548. PMID: 32243820, PMCID: PMC7118558, DOI: 10.1016/j.ajhg.2020.03.004.Peer-Reviewed Original ResearchConceptsMillion Veteran ProgramGenome-wide association studiesGenome-wide scanHigh-quality genotypesArray-based genotypingWhole-genome sequencingNon-European individualsAssociation studiesGenetic markersOmics assaysAxiom arrayDownstream analysisVeteran ProgramCommon variantsGenetic associationAfrican American ancestryAmerican ancestryMVP cohortRare variantsSingle assayDiversityFurther data releasesLarge biobanksPromising resourceQuality control
2008
Substance dependence low-density whole genome association study in two distinct American populations
Yu Y, Kranzler HR, Panhuysen C, Weiss RD, Poling J, Farrer LA, Gelernter J. Substance dependence low-density whole genome association study in two distinct American populations. Human Genetics 2008, 123: 495. PMID: 18438686, PMCID: PMC3428017, DOI: 10.1007/s00439-008-0501-0.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphism (SNP) markersWhole-genome association studiesFuture candidate gene studiesGenome association studiesCandidate gene studiesPotential biological relevancePolymorphism markersGenetic basisAssociation studiesGenetic markersHigh heritabilityGene studiesCocaine-induced paranoiaBiological relevanceGenesComplex disorderNew hypothesisFamilyAmerican populationGeneticsHeritabilityMarkers
2004
Genome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus
Gelernter J, Page GP, Stein MB, Woods SW. Genome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus. American Journal Of Psychiatry 2004, 161: 59-66. PMID: 14702251, DOI: 10.1176/appi.ajp.161.1.59.Peer-Reviewed Original ResearchConceptsGenome-wide linkage scanLinkage scanChromosome 16LOD scoreGenetic linkage analysisNorepinephrine transporter proteinLinkage genome scanGenomic locationEntire genomeChromosome 16 markersGenome scanMultipoint LOD scoreRisk lociTransporter proteinsGenetic markersLinkage analysisSusceptibility lociChromosome 9Physiological candidatesLocus predisposingLociZlr scoreAmerican pedigreesX softwareD16S415
2001
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms