grant

'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."

Organization SEATTLE CHILDREN'S HOSPITALLocation SEATTLE, UNITED STATESPosted 1 May 2023Deadline 30 Apr 2028
NIHUS FederalResearch GrantFY2026AddressAllelesAllelomorphsAreaAutopsyBasal Transcription FactorBasal transcription factor genesBenchmarkingBest Practice AnalysisBiologyBloodBlood Reticuloendothelial SystemBody TissuesCancer cell lineCatalogsCell BodyCell LineCellLineCellsChromatinCollaborationsComplexDNA SequenceDNA seqDNA sequencingDNAseqDataData AnalysesData AnalysisData SetDetectionDiseaseDisorderElementsEpigeneticEpigenetic ChangeEpigenetic MechanismEpigenetic ProcessGene TranscriptionGene variantGeneral Transcription Factor GeneGeneral Transcription FactorsGenesGenetic DiversityGenetic TranscriptionGenetic VariationGenetic studyGenomeGenomic SegmentGenomicsGoalsHaplotypesHealthHi-CHumanHuman GeneticsHuman GenomeIndividualInternationalKnowledgeLarge-Scale SequencingLengthLocationMethodsMethylationModern ManMolecular ConfigurationMolecular ConformationMolecular StereochemistryMosaicismMutateNon-Polyadenylated RNANormal CellNucleotidesPatternPhasePlayPrincipal InvestigatorRNARNA ExpressionRNA Gene ProductsRNA SeqRNA sequencingRNAseqRibonucleic AcidRoleSamplingSightSmaHTSomatic Mosaicism across Human TissuesSomatic MutationStrains Cell LinesStructureTissuesTranscriptTranscriptionTranscription Factor Proto-OncogeneTranscription factor genesValidationVariantVariationVisionWorkallelic variantbenchmarkcatalogconformationconformationalconformational stateconformationallyconformationscostcultured cell linedata interpretationdesigndesigningentire genomeepigeneticallyfull genomegene locusgenetic locusgenetic variantgenome scalegenome segmentgenome-widegenomewidegenomic locationgenomic locusgenomic regiongenomic varianthuman diseasehuman reference assemblyhuman reference genomehuman tissuehuman whole genomeimprovedlong read seqlong-read sequencinglong-read transcript sequencingmembermosaic diseasesmosaic disordersnano porenanoporenecropsypostmortemprecision genomic medicineprogramsreference assemblyreference genomescaffoldscaffoldingsingle moleculesocial rolesomatic variantstructural mutationstructural variantstructural variationtelomeretranscription factortranscriptome sequencingtranscriptomic sequencingvalidationsvisual functionwhole genome
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PROJECT SUMMARY
Precision genomic medicine depends on a complete understanding of all forms of genetic variation in normal

individuals. However, current approaches for studying genetic variation in humans have yielded an incomplete

snapshot of somatic variation and its contribution to health and disease, as current approaches typically

sequence a…

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'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: G | Dev Procure