2021
Comprehensive identification of somatic nucleotide variants in human brain tissue
Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR, Vaccarino F, Moran J, Urban A, Kidd J, Mills R, Abyzov A. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biology 2021, 22: 92. PMID: 33781308, PMCID: PMC8006362, DOI: 10.1186/s13059-021-02285-3.Peer-Reviewed Original ResearchConceptsSomatic SNVsSomatic single nucleotide variantsWhole-genome sequencing dataSequencing dataBulk DNA samplesCell lineage treesSomatic mosaicismSingle nucleotide variantsLineage treesSomatic nucleotide variantsCellular processesDNA replicationHuman genomeSomatic tissuesDNA repairNucleotide variantsComprehensive identificationDNA samplesMosaic variantsNon-cancerous tissuesDNASingle individualMultiple replicatesHuman brain tissueVariants
2019
Chromatin organization modulates the origin of heritable structural variations in human genome
Roychowdhury T, Abyzov A. Chromatin organization modulates the origin of heritable structural variations in human genome. Nucleic Acids Research 2019, 47: 2766-2777. PMID: 30773596, PMCID: PMC6451188, DOI: 10.1093/nar/gkz103.Peer-Reviewed Original ResearchMolecular signatures of multiple myeloma progression through single cell RNA-Seq
Jang J, Li Y, Mitra A, Bi L, Abyzov A, van Wijnen A, Baughn L, Van Ness B, Rajkumar V, Kumar S, Jen J. Molecular signatures of multiple myeloma progression through single cell RNA-Seq. Blood Cancer Journal 2019, 9: 2. PMID: 30607001, PMCID: PMC6318319, DOI: 10.1038/s41408-018-0160-x.Peer-Reviewed Original ResearchConceptsMM patientsMultiple myelomaPoor overall survivalCD138-positive cellsBone marrow aspirateMultiple myeloma progressionSingle-cell RNA-seqMGUS patientsGene expression signaturesOverall survivalMM progressionDisease progressionMyeloma progressionPatient prognosisTreatment stratificationMarrow aspiratesPlasma cellsPositive cellsPatientsL4 groupGene signatureLow expressionExpression signaturesMolecular pathwaysProgression
2016
A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals
Chen J, Rozowsky J, Galeev TR, Harmanci A, Kitchen R, Bedford J, Abyzov A, Kong Y, Regan L, Gerstein M. A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals. Nature Communications 2016, 7: 11101. PMID: 27089393, PMCID: PMC4837449, DOI: 10.1038/ncomms11101.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsBinding SitesChromosome MappingComputational BiologyDatabases, GeneticGene ExpressionGene FrequencyGenome, HumanGenomicsGenotypeHigh-Throughput Nucleotide SequencingHuman Genome ProjectHumansInternetMolecular Sequence AnnotationPolymorphism, Single NucleotidePrecision MedicineConceptsSingle nucleotide variantsAllele-specific bindingFunctional genomics data setsAllele-specific behaviorLarge-scale sequencingGenomic data setsAllelic imbalanceNumber of readsChIP-seqRNA-seqGenome ProjectMaternal chromosomesNucleotide variantsPersonal genomesMapping biasAllelic variantsVariant catalogMultiple individualsFunctional effectsProject individualsBindingExpressionVariantsGenomeChromosomes
2015
Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors
Mitra A, Mukherjee U, Harding T, Jang J, Stessman H, Li Y, Abyzov A, Jen J, Kumar S, Rajkumar V, Van Ness B. Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors. Leukemia 2015, 30: 1094-1102. PMID: 26710886, DOI: 10.1038/leu.2015.361.Peer-Reviewed Original ResearchConceptsSingle cellsIndividual cellsSignificant genetic diversitySingle-cell analysisGene expression profile signaturesSingle-cell levelGenetic diversityTranscriptome analysisDrug responseCellular responsesDrug sensitivityBulk populationInhibitor sensitivitySubclonal architectureProfiling studiesPCR analysisPrediction programsCell linesMyeloma cell linesTumor progressionCellsIntratumor heterogeneityProfile signaturesProteasome inhibitor sensitivitySubclonal level
2013
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
Abyzov A, Iskow R, Gokcumen O, Radke DW, Balasubramanian S, Pei B, Habegger L, Consortium T, Lee C, Gerstein M. Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division. Genome Research 2013, 23: 2042-2052. PMID: 24026178, PMCID: PMC3847774, DOI: 10.1101/gr.154625.113.Peer-Reviewed Original ResearchConceptsCell divisionCorrect phylogenetic treeGenomes Project ConsortiumHuman populationTranscription of mRNARetroduplicationPhylogenetic treeParent genesGenomic integrationCell cycleG1 transitionMore copiesGenesRetrotranspositionHuman subpopulationsMultiple linesRetrogenesPseudogenesTranscriptionDivisionRNAVariantsProteinMRNACopies
2011
Integration of protein motions with molecular networks reveals different mechanisms for permanent and transient interactions
Bhardwaj N, Abyzov A, Clarke D, Shou C, Gerstein MB. Integration of protein motions with molecular networks reveals different mechanisms for permanent and transient interactions. Protein Science 2011, 20: 1745-1754. PMID: 21826754, PMCID: PMC3218368, DOI: 10.1002/pro.710.Peer-Reviewed Original ResearchMeSH KeywordsComputational BiologyDatabases, ProteinModels, MolecularProtein BindingProtein Interaction MappingProteinsSoftwareConceptsMulti-interface hubsMolecular networksConformational changesInteraction networksTransient interactionsStructural interaction networksProtein interaction networksClassification of proteinsDynamic conformational changesProtein structural featuresSmall conformational changesTransient associationGene expressionMore plasticityProtein motionsStructural databankProteinAlternate conformationDifferent mechanismsDrastic structural changesDomainInteraction
2010
Analysis of Combinatorial Regulation: Scaling of Partnerships between Regulators with the Number of Governed Targets
Bhardwaj N, Carson MB, Abyzov A, Yan KK, Lu H, Gerstein MB. Analysis of Combinatorial Regulation: Scaling of Partnerships between Regulators with the Number of Governed Targets. PLOS Computational Biology 2010, 6: e1000755. PMID: 20523742, PMCID: PMC2877725, DOI: 10.1371/journal.pcbi.1000755.Peer-Reviewed Original Research
2009
PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data
Korbel JO, Abyzov A, Mu XJ, Carriero N, Cayting P, Zhang Z, Snyder M, Gerstein MB. PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data. Genome Biology 2009, 10: r23. PMID: 19236709, PMCID: PMC2688268, DOI: 10.1186/gb-2009-10-2-r23.Peer-Reviewed Original Research
2007
Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways
Uzun A, Leslin C, Abyzov A, Ilyin V. Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways. Nucleic Acids Research 2007, 35: w384-w392. PMID: 17537826, PMCID: PMC1933130, DOI: 10.1093/nar/gkm232.Peer-Reviewed Original ResearchConceptsMetabolic pathwaysSNP databasePathway informationProtein structureMulti-protein complexesOpen reading frameAmino acid sequenceMetabolic pathway informationDisease-related pathwaysNCBI SNP databaseProtein databaseReading frameMolecular basisAcid sequencePathway relationsNsSNPsFunctional consequencesComparative modelingProteinEdu/PathwayGenesWeb serverSNPsStructure data
2005
Friend, an integrated analytical front-end application for bioinformatics
Abyzov A, Errami M, Leslin C, Ilyin V. Friend, an integrated analytical front-end application for bioinformatics. Bioinformatics 2005, 21: 3677-3678. PMID: 16076889, DOI: 10.1093/bioinformatics/bti602.Peer-Reviewed Original ResearchConceptsSpecific interaction motifsProtein-DNA interactionsSequences of proteinsProtein folding studiesSequence-structure relationshipFunctional annotationInteraction motifsPhylogeny analysisDNA/RNAProtein modelingSequence alignmentFolding studiesRemote sequencesProteinStructural alignmentStructure databaseProgramming experienceBioinformatics applicationsSequenceCommand line interfaceExtensive GUIRNABioinformaticsFront-end applicationsMotif