grant
Hybrid approach for comprehensive mutation detection in a cell
Organization MAYO CLINIC ROCHESTERLocation ROCHESTER, UNITED STATESPosted 15 Apr 2023Deadline 31 Mar 2028
NIHUS FederalResearch GrantFY2025AddressAnatomic SitesAnatomic structuresAnatomyArtifactsAutopsyBenchmarkingBest Practice AnalysisBiopsyBladderBladder Urinary SystemBody TissuesBone Marrow Blood-Deriving CellBone Marrow Blood-Forming CellBone Marrow CellsCell BodyCell Growth in NumberCell LineCell MultiplicationCell ProliferationCellLineCellsCellular ProliferationCharacteristicsChondrocytesClonal ExpansionClone CellsCloningColonComplexCorneaCryopreserved CellCytogeneticsDNADNA ReplicationDNA SynthesisDNA amplificationDNA biosynthesisDNA mutationDeoxyribonucleic AcidDevelopmentDisadvantagedEndothelial CellsEpitheliumEquilibriumEsophagusExtremitiesFertilized EggFertilized OvumFibroblastsFreezingFrequenciesGeneticGenetic ChangeGenetic defectGenetic mutationGenomeHair FollicleHair follicle structureHaplotypesHeartHeterogeneityHumanHuman FigureHuman bodyHybridsIn VitroIntestinalIntestinesJointsKidneyKidney Urinary SystemLimb structureLimbsLungLung Respiratory SystemMethodsModern ManMorphologic artifactsMosaicismMuscle CellsMutationMutation DetectionMyocytesNatureNetwork AnalysisNon-TrunkOrganPathway AnalysisPhasePolymeraseProgenitor CellsProliferatingProtocolProtocols documentationRepetitive ElementRepetitive RegionsRepetitive SequenceScalpScalp structureSkinSkin TissueSomatic MutationStomachStrains Cell LinesSystemTestingTissue PreservationTissuesWorkbalancebalance functionbenchmarkbiobankbiorepositorybowelcell typecornealcultured cell linecutaneous tissuedevelopmentalentire genomefull genomegastricgenome analysisgenome mutationhuman tissuelong read seqlong-read sequencinglong-read transcript sequencinglow-frequency mutationmelanocytemosaicmosaic diseasesmosaic disordersnecropsynew approachesnovel approachesnovel strategiesnovel strategypostmortempreservationproliferation capabilityproliferation capacityproliferation potentialproliferative capabilityproliferative capacityproliferative potentialrare allelerare mutationrare variantrenalsingle cell analysissomatic variantstem cellssuccessurinary bladderwhole genomezygote
Description preview
Abstract
Numerous recent studies have consistently shown that likely no two cells in the human body have the
same genomes, a phenomenon called somatic mosaicism. Mosaicism can be studied using various approaches,
but the study of mutations directly in the cell promises a comprehensive characterization of mosaicism in any
tissue. Analysis of…
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