2020
Complex mosaic structural variations in human fetal brains
Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck F, Urban AE, Vaccarino F, Abyzov A. Complex mosaic structural variations in human fetal brains. Genome Research 2020, 30: gr.262667.120. PMID: 33122304, PMCID: PMC7706730, DOI: 10.1101/gr.262667.120.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsStructural variantsMegabase-scale copy number variantsHuman fetal brainFunctional consequencesMobile element insertionsSimilar functional consequencesFetal brainMosaic single-nucleotide variantsAdult brain neuronsStructural variationsPotential functional consequencesKilobase scaleDNA eventsGenomic fragmentDifferent chromosomesElement insertionsClonal approachHuman brain cellsFetal human brainNucleotide variantsReplication errorsHuman brainNumber variants
2016
Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis
Dhokarh D, Abyzov A. Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis. Genome Research 2016, 26: 874-881. PMID: 27216746, PMCID: PMC4937565, DOI: 10.1101/gr.205484.116.Peer-Reviewed Original ResearchConceptsSNPs/indelsComplex genomic rearrangementsHundreds of lociComplex human traitsAllele frequency spectrumReplication-based mechanismsBreakpoints of deletionsGermline lineageParental genomesSV breakpointsGenomic rearrangementsGenome ProjectMutational mechanismsDeletion eventsGenomic disordersHeterozygous SNPsStructural variantsVariant densityHuman traitsIndelsNumber variantsFold changeGermline deletionCNV formationDeletion
2012
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 2012, 492: 438-442. PMID: 23160490, PMCID: PMC3532053, DOI: 10.1038/nature11629.Peer-Reviewed Original Research
2011
Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms
Haraksingh RR, Abyzov A, Gerstein M, Urban AE, Snyder M. Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms. PLOS ONE 2011, 6: e27859. PMID: 22140474, PMCID: PMC3227574, DOI: 10.1371/journal.pone.0027859.Peer-Reviewed Original ResearchConceptsArray comparative genome hybridizationCopy number variantsHigh‐resolution array platformGenome-wide CNV detectionCNV detectionGenome-wide detectionHuman genomic variationComparative genome hybridizationSingle nucleotide polymorphism (SNP) genotypingCopy number variationsAffymetrix SNP 6.0 arraysArray-based platformsNucleotide polymorphism genotypingM-CGHWide mappingGenomic variationSNP 6.0 arraysCytogenetic researchWhole genomeGenome hybridizationSample NA12878Breakpoint resolutionNumber variationsNumber variantsGenome