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Utilization of Advanced Technologies for the Understanding of Human Structural Birth Defects

Organization SEATTLE CHILDREN'S HOSPITALLocation SEATTLE, UNITED STATESPosted 11 Jan 2021Deadline 31 Dec 2025 ⚠️
NIHUS FederalResearch GrantFY20250-11 years old3-D3-D Images3-D Imaging3-D image3-Dimensional3D3D image3D images3D imagingAffectBiologic ModelsBiologicalBiological ModelsBiologyBirth DefectsBloodBlood Reticuloendothelial SystemBody TissuesCAT scanCT X RayCT XrayCT imagingCT scanCell BodyCellsChildChild YouthChildren (0-21)ClinicalComputed TomographyComputer Vision SystemsCongenital AbnormalityCongenital Anatomical AbnormalityCongenital DefectsCongenital DeformityCongenital MalformationCopy Number PolymorphismDNADNA mutationDNA seqDNA sequencingDNAseqDataData AnalysesData AnalysisData SetDefectDeoxyribonucleic AcidDevelopmentDevelopmental BiologyDiagnosisDiseaseDisorderEmbryoEmbryo DevelopmentEmbryogenesisEmbryonicEmbryonic DevelopmentEpigeneticEpigenetic ChangeEpigenetic MechanismEpigenetic ProcessEvaluationFetusFrequenciesGene TranscriptionGenesGenetic ChangeGenetic DiversityGenetic TranscriptionGenetic VariationGenetic defectGenetic mutationGenomicsGestationGoalsHarvestHedgehog (Hh) signal transduction pathwayHumanHuman DevelopmentImageInvestigationInvestigatorsKnowledgeLiteratureMachine LearningMethodsMiceMice MammalsModel SystemModern ManModificationMorphologyMurineMusMutant Strains MiceMutationOrganogenesisOrthologOrthologous GenePathway interactionsPatientsPhenotypePregnancyProbabilityProspective cohortProteinsRNA ExpressionRNA SeqRNA sequencingRNAseqReproducibilityResearch InstituteResearch PersonnelResearchersSHHSHH geneSamplingScienceShapesSonic HedgehogStructural Birth DefectStructural Congenital AnomaliesSyndromeTechniquesTechnologyThree-Dimensional ImageThree-Dimensional ImagingTissuesTomodensitometryTrainingTranscriptionUniversitiesVariantVariationWashingtonX-Ray CAT ScanX-Ray Computed TomographyX-Ray Computerized TomographyX-ray microtomographyXray CAT scanXray Computed TomographyXray computerized tomographyXray microtomographyauto-segmentationautomated segmentationautomatic segmentationautosegmentationbiologiccatscancell typecohortcomputational anatomycomputed axial tomographycomputer tomographycomputer visioncomputerized axial tomographycomputerized tomographycongenital structural malformationcopy number variantcopy number variationdata interpretationdeep learningdeep learning methoddeep learning strategydevelopmentalepigeneticallyexome sequencingexome-seqgenome mutationgenome sciencesgenomic sciencehedgehog signalinghedgehog signaling pathwayhh signaling pathwayhuman diseasehuman population geneticsimagingimaging in miceimaging studies for miceimaging studies in miceindexinginsightkidsmachine based learningmachine learning based modelmachine learning modelmice imagingmicro CTmicro computed tomographymicroCTmicrotomographymorphometrymosaicmosaic allelemosaic mutationmosaic variantmouse modelmouse mutantmurine imagingmurine modelmutantnew technologynon-contrast CTnoncontrast CTnoncontrast computed tomographynovelnovel technologiesorgan developmentorgan growthpathwayresponsescRNA sequencingscRNA-seqsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsmoothened signaling pathwaythree dimensionaltranscriptome sequencingtranscriptomic sequencingyoungster

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PROJECT SUMMARY
The unifying theme of this proposal is the aim to use state-of-the-art technologies to investigate the basic

biology of mammalian organ development and human structural birth defects. Our approach is wide-ranging,

and aims to demonstrate how utilization of powerful technologies can inform many disorders. Importantly, this

proposal…

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