Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP. Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics 2014, 15: 1155. PMID: 25528277, PMCID: PMC4367882, DOI: 10.1186/1471-2164-15-1155.Peer-Reviewed Original ResearchConceptsHearing lossHereditary hearing lossExome sequencingSensorineural hearing lossType II myosinGenome-wide CNV analysisCase-control cohortNon-syndromic sensorineural hearing lossStrong candidate geneLoss patientsDirect clinical applicationGenetic diversityNovel lociClinical settingCytoskeletal proteinsCandidate genesCandidate lociVariants mappingDistinct familiesChromosome 16Loss phenotypeClinical applicationNovel regionLociCNV analysisGenome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence
Li D, Zhao H, Kranzler HR, Li MD, Jensen KP, Zayats T, Farrer LA, Gelernter J. Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence. Neuropsychopharmacology 2014, 40: 1016-1026. PMID: 25345593, PMCID: PMC4330517, DOI: 10.1038/npp.2014.290.Peer-Reviewed Original ResearchMeSH KeywordsAlpha CateninChromosome DeletionChromosome DisordersChromosomes, Human, Pair 18DNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLeukocyte Common AntigensMaleMeta-Analysis as TopicOpioid-Related DisordersReceptor-Like Protein Tyrosine Phosphatases, Class 2ConceptsCopy number variationsAssociation studiesNumber variationsGenome-wide association studiesWide association studyUnique copy number variationsCommon copy number variationFirst GWASHarbor genesMissing heritabilityHuman genomeGenomic variationBiological importanceGenomeGenesGenetic risk factorsHeritabilitySubstance dependence riskGWASDuplicationDeletionReplicationPolymorphismVariationSmall proportion