2017
Landscape and variation of novel retroduplications in 26 human populations
Zhang Y, Li S, Abyzov A, Gerstein MB. Landscape and variation of novel retroduplications in 26 human populations. PLOS Computational Biology 2017, 13: e1005567. PMID: 28662076, PMCID: PMC5510864, DOI: 10.1371/journal.pcbi.1005567.Peer-Reviewed Original ResearchConceptsParent genesSequencing dataHigh-coverage exomesLow-coverage whole-genome sequencing dataHuman populationWhole-genome sequencing dataExon-exon junctionsGenomes Phase 3Young L1 elementsPaired-end readsPotential disease associationsRetrotranspositional activityGenomic elementsNucleosome positioningPhylogenetic treeRetroduplicationExome sequencing dataReference genomeGenomic featuresInsertion eventsL1 elementsComprehensive discoveryPopulation markersSNP callingFunctional regions
2012
Regulatory element copy number differences shape primate expression profiles
Iskow RC, Gokcumen O, Abyzov A, Malukiewicz J, Zhu Q, Sukumar AT, Pai AA, Mills RE, Habegger L, Cusanovich DA, Rubel MA, Perry GH, Gerstein M, Stone AC, Gilad Y, Lee C. Regulatory element copy number differences shape primate expression profiles. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 12656-12661. PMID: 22797897, PMCID: PMC3411951, DOI: 10.1073/pnas.1205199109.Peer-Reviewed Original ResearchConceptsCopy number differencesExpression differencesExpression profilesLong intergenic noncoding RNAsCopy numberIntergenic noncoding RNAsGene expression differencesSignificant expression differencesGene expression profilesLevel of RNAUltraconserved elementsRegulatory regionsNoncoding RNAsSelective pressureDifferent genesRegulatory moleculesDevelopmental pathwaysPhenotypic differencesPrimate speciesGenesRNANumber differenceSpeciesExpressionPseudogenes