grant

Genomic Ascertainment - Clinical and Behavioral Aspects

Organization NATIONAL HUMAN GENOME RESEARCH INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY2025AddressAmendmentAnxietyAreaAttitudeBehavioralBlood SampleBlood specimenClinicalClinical EvaluationClinical Medical SciencesClinical MedicineClinical TestingCollaborationsDataDevelopmentDiseaseDisorderDysfunctionFearFoundationsFrightFunctional disorderGene variantGenesGenetic CounselingGenetsGenomeGenomic TestingGenomic medicineGenomicsGenotypeGoalsHealthHealth Care CostsHealth CostsHealth Services EvaluationHealth Services ResearchImageIndividualInvestigatorsLaboratoriesMalignant HyperpyrexiaMalignant HyperthermiaMalignant hyperpyrexia due to anesthesiaMedicalMedical Care ResearchMedicineMental DepressionModelingMolecularMotivationMuscleMuscle TissueOverutilization of Health ServicesPaperParticipantPenetrancePersonsPharmacogeneticsPhenotypePhysiciansPhysiopathologyPopulationPredispositionPrevalenceRecommendationRecontactsRecurrenceRecurrentResearchResearch PersonnelResearch ResourcesResearchersResourcesRiskSightStandard ModelSurvey InstrumentSurveysSusceptibilityTest ResultTestingVariantVariationVisionWorkadverse consequenceadverse outcomeallelic variantanesthesia related hyperthermiabiobankbiorepositorycare resourcesclinical careclinical practiceclinical relevanceclinical testclinically relevantdata communicationdepressiondevelopmentaldiagnostic abilitydiagnostic capabilitydiagnostic powerdiagnostic utilitydiagnostic valueexomeexome sequencingexome-seqgenetic consultationgenetic counselorgenetic variantgenome based testinggenome medicinegenome scalegenome sequencinggenome testinggenome-widegenomewidegenomic DNA testinggenomic based testinggenomic clinical testinggenomic datagenomic datasetgenomic predictorsgenomic profiling testinggenomic screening testgenomic varianthealth care overutilizationhealth care resourceshyperthermia of anesthesiaimagingimprovedindividual patientinterestlow-frequency mutationmuscularneurosurgerynew technologynovel technologiesoveruse of health carepathophysiologyphenotypic dataprecision genomic medicineprogramsrare allelerare mutationrare variantreproductiveresearch clinical testingscreeningscreeningsservices researchtomographyvisual function
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Predictive genomic medicine or precision genomic medicine is of the highest medical importance and is an active area of research. We began piloting the return of genome-wide rare variants with the inception of the ClinSeq program in 2006, well before exome and genome sequencing became widespread (Biesecker et al., Genome Res 2009). We have…

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Genomic Ascertainment - Clinical and Behavioral Aspects — NATIONAL HUMAN GENOME RESEARCH INSTITUTE | UNITED STATES | Dev Procure