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 analysesGenesMapping and characterization of structural variation in 17,795 human genomes
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S, Matise T, Muzny D, Zody M, Lander E, Dutcher S, Stitziel N, Hall I. Mapping and characterization of structural variation in 17,795 human genomes. Nature 2020, 583: 83-89. PMID: 32460305, PMCID: PMC7547914, DOI: 10.1038/s41586-020-2371-0.Peer-Reviewed Original ResearchConceptsStructural variantsWhole-genome sequencingHuman genomeUltra-rare structural variantsRare structural variantsSuch structural variantsSingle nucleotide variantsNoncoding elementsDosage sensitivityGenomeHuman geneticsSmall insertionsComplex rearrangementsDeletion variantsSmall variantsStructural variationsGenesSequencingAllelesForm of variationVariantsElement classesSite frequency dataDeleterious effectsGenetics