Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
Scott AJ, Chiang C, Hall IM. Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes. Genome Research 2021, 31: gr.275488.121. PMID: 34544830, PMCID: PMC8647827, DOI: 10.1101/gr.275488.121.Peer-Reviewed Original ResearchRare structural variantsGene expression differencesStructural variantsNearby genesExpression differencesGene expressionMultiple nearby genesIndividual structural variantsHuman genome diversityMobile element insertionsGene expression changesGene expression outliersCommon structural variantsCurrent annotationGenome diversityPhenotypic variationGTEx projectRegulatory elementsElement insertionsExpression outliersMultiple genesDifferent genesExpression changesMultitissue analysesGenesThe Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning
Hazen JL, Faust GG, Rodriguez AR, Ferguson WC, Shumilina S, Clark RA, Boland MJ, Martin G, Chubukov P, Tsunemoto RK, Torkamani A, Kupriyanov S, Hall IM, Baldwin KK. The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning. Neuron 2016, 89: 1223-1236. PMID: 26948891, PMCID: PMC4795965, DOI: 10.1016/j.neuron.2016.02.004.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsAnimalsAnimals, NewbornCadherin Related ProteinsCadherinsCell DivisionCloning, MolecularDNA Transposable ElementsEmbryo, MammalianFemaleHumansKi-67 AntigenMiceMice, TransgenicMicrosatellite RepeatsMutationNerve Tissue ProteinsNeuronsNuclear Transfer TechniquesOlfactory BulbOocytesSequence Analysis, DNAConceptsCell type diversificationComplete genome sequenceMobile element insertionsNuclear transfer methodWhole-genome sequencingNeuronal genomeGene-disrupting mutationsNeuronal mutationsGenome sequenceUnique mutational spectrumDevelopmental potencyComprehensive mutation detectionElement insertionsGenomic mutationsRecurrent rearrangementsNovel mechanismUnique mutationsMutationsSomatic mutationsGene biasGenomeAdult neuronsMutational spectrumFertile miceMutation detection