Empowering gene discovery and accelerating clinical translation for diverse admixed populations
促进基因发现并加速不同混合人群的临床转化
基本信息
- 批准号:10584936
- 负责人:
- 金额:$ 78.2万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2023
- 资助国家:美国
- 起止时间:2023-09-11 至 2028-06-30
- 项目状态:未结题
- 来源:
- 关键词:AccelerationAccountingAddressAdmixtureAffectAfrican AmericanAll of Us Research ProgramAllelesAmericanAsthmaAwardAwarenessBenchmarkingCardiovascular DiseasesClinicalCollectionComplexComputer softwareComputing MethodologiesDNADataData CollectionDevelopmentDevelopment PlansDiabetes MellitusDiseaseDistalEnsureEnvironmentEquityEuropeanExclusionFaceFrequenciesFunctional disorderGenesGeneticGenetic DriftGenetic VariationGenetic studyGenomeGenomic medicineGenomicsGoalsGuidelinesHaplotypesIndividualLatinx populationLinkage DisequilibriumMalignant NeoplasmsMapsMedicalMedical GeneticsMethodologyMethodsMinorityMinority GroupsMissionModelingMolecularNational Human Genome Research InstituteNatureOutcomeOutcome StudyPersonsPhasePhenotypePopulationPopulation HeterogeneityPositioning AttributePost-Traumatic Stress DisordersRecommendationResearchResearch PersonnelResolutionResourcesSamplingSignal TransductionSiteSoftware ToolsStatistical MethodsStructureTestingTrainingUnderrepresented PopulationsUnited States National Institutes of HealthVariantWorkbiobankcareerclinical translationcloud basedcohortcomputer frameworkdiversity and inclusionempowermentexperienceflexibilitygene discoverygene interactiongenetic architecturegenetic elementgenome wide association studygenomic toolshealth disparityimprovedin silicoinnovationlarge scale datamolecular targeted therapiesnovelpopulation stratificationrare variantsimulationstatisticssuccesstooltool developmenttraittrendyears lived with disability
项目摘要
PROJECT SUMMARY/ABSTRACT
Gene discovery has revolutionized medical genetics, but gaps remain in the understanding of complex disorders
in minority populations, in particular “admixed” groups of mixed ancestry. Admixed populations are systematically
excluded from genomic studies due largely to the lack of analytic approaches that can account for their genomic
diversity. Admixed populations, including African American and Latinx individuals, make up more than a third of the
U.S. populace and have higher rates of some common complex disorders including cardiovascular disease, diabetes,
some cancers, and PTSD – disorders which rank amongst the top global contributors to years lived with disability.
Yet, these groups face severe disparities in health research and treatment due to being so sorely underrepresented
in genomics. To reap full and equitable benefits from existing and ongoing efforts including All of Us, there is an unmet
need for the development of tools permitting the study of complex traits in admixed peoples.
Dr. Atkinson proposes to address this pressing issue by developing a suite of innovative statistical methods,
software packages, and analytical resources that will make genomics more inclusive. In this 5-year R01 award, she
will: 1a) build a novel statistical method to allow for the integration of admixed individuals into rare variant association
studies; 1b) test this new method in a scalable cloud-based software implementation across phenotypes of varying
genetic architectures in the All of Us Research Program; and 1c) leverage the linkage disequilibrium in admixed
individuals to improve fine-mapping of top loci. We will also develop novel software tools to 2a) realistically simulate
diverse cohorts; which we will use to 2b) define best practice recommendations for multi-ancestry phasing, imputation,
and local ancestry inference; and 2c) assess the impact of common analytic strategies for diverse collections on gene
discovery outcomes. Finally, we will leverage admixture to 3a) extend our ancestry-informed frameworks to quantify
gene-gene interactions both locally and distally; and 3b) characterize trends in allelic effect size differences across
ancestry components with control over the environment. These efforts fill a major gap in existing resources and
remove barriers to the inclusion of underrepresented populations in medical genomics. This work is in direct line with
the strategic missions of the NIH/NHGRI to focus on inclusion and diversity, highlighting the crucial and timely nature
of the proposed project.
项目总结/文摘
项目成果
期刊论文数量(0)
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Elizabeth Grace Atkinson其他文献
Elizabeth Grace Atkinson的其他文献
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{{ truncateString('Elizabeth Grace Atkinson', 18)}}的其他基金
A framework enabling the genomic analysis of psychiatric traits across admixed populations.
一个能够对混合人群的精神特征进行基因组分析的框架。
- 批准号:
10405367 - 财政年份:2019
- 资助金额:
$ 78.2万 - 项目类别:
A framework enabling the genomic analysis of psychiatric traits across admixed populations.
一个能够对混合人群的精神特征进行基因组分析的框架。
- 批准号:
10022335 - 财政年份:2019
- 资助金额:
$ 78.2万 - 项目类别:
A framework enabling the genomic analysis of psychiatric traits across admixed populations.
一个能够对混合人群的精神特征进行基因组分析的框架。
- 批准号:
10470343 - 财政年份:2019
- 资助金额:
$ 78.2万 - 项目类别:
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