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Modeling the dynamicimpact of rare and common genetic variation on gene expression anddisease

Organization JOHNS HOPKINS UNIVERSITYLocation BALTIMORE, UNITED STATESPosted 1 Jan 2021Deadline 31 Dec 2025 ⚠️
NIHUS FederalResearch GrantFY202521+ years oldAdultAdult HumanAffectBiologicalBody TissuesCell DifferentiationCell Differentiation processChromosome MappingComplementComplement ProteinsComplexComputer softwareDataDevelopmentDiseaseDisease ProgressionDisorderEnvironmentEvaluationExclusionFrequenciesFunctional RNAGene ExpressionGene LocalizationGene MappingGene Mapping GeneticsGene TargetingGene variantGenesGeneticGenetic DiversityGenetic RiskGenetic VariationGenomeHeritabilityHumanIndividualInterventionLinkLinkage MappingMethodsModelingModern ManNoncoding RNANontranslated RNAOrphan DiseasePathogenicityPathway interactionsPatientsPopulationPopulation GeneticsPopulation StudyQTLQuantitative Trait LociRNA SeqRNA sequencingRNAseqRare DiseasesRare DisorderResearchResearch ResourcesResourcesRisk-associated variantSeriesSoftwareStatistical MethodsTimeTissue SampleTissuesTotal Human and Non-Human Gene MappingUntranslated RNAVariantVariationWorkadulthoodallelic variantbiologiccell typecellular differentiationcomplementationdevelopmentaldisease riskdisorder riskentire genomefull genomegene locusgenetic locusgenetic mappinggenetic variantgenome sequencinggenomic locationgenomic locusgenomic varianthuman diseaseimprovedlow-frequency mutationnoncodingnovelorphan disorderpathwaypopulation-based studypopulation-level studypublic health relevancerare allelerare mutationrare variantrisk allelerisk generisk genotyperisk locirisk locusrisk variantscRNA sequencingscRNA-seqsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingstatistic methodsstudies of populationsstudy of the populationtherapeutic agent developmenttherapeutic developmenttime usetranscriptome sequencingtranscriptomic sequencingwhole genome

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Description preview

Understanding the genetic basis of human disease will require a deep understanding of genetic effects on
gene expression. The vast majority of disease-risk loci are non-coding, so in order to link them to target

genes, cellular pathways, and cell types, we seek to identify which genes’ expression they disrupt and under

what conditions. Population…

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