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.
项目概要/摘要
基因发现彻底改变了医学遗传学,但对复杂疾病的理解仍存在差距
在少数群体中,特别是具有混合血统的“混合”群体。混合人群有系统地
被排除在基因组研究之外,很大程度上是因为缺乏可以解释其基因组的分析方法
多样性。混血人口,包括非裔美国人和拉丁裔,占总人口的三分之一以上
美国民众罹患一些常见复杂疾病的比例较高,包括心血管疾病、糖尿病、
一些癌症和创伤后应激障碍(PTSD)——这些疾病是全球导致残疾多年的主要原因之一。
然而,由于代表性严重不足,这些群体在健康研究和治疗方面面临严重差异
在基因组学中。为了从包括我们所有人在内的现有和正在进行的努力中获得充分和公平的利益,还有一个未满足的目标
需要开发能够研究混血民族复杂特征的工具。
阿特金森博士建议通过开发一套创新的统计方法来解决这一紧迫问题,
软件包和分析资源将使基因组学更具包容性。在这5年的R01奖中,她
将: 1a)建立一种新颖的统计方法,以允许将混合个体整合到稀有变异关联中
研究; 1b) 在可扩展的基于云的软件实施中测试这种新方法,跨不同的表型
“我们所有人研究计划”中的遗传结构; 1c)利用混合中的连锁不平衡
个人改善顶级基因座的精细作图。我们还将开发新颖的软件工具来 2a) 真实地模拟
多样化的群体;我们将用它来 2b) 定义多祖先阶段、插补的最佳实践建议,
以及当地血统推断; 2c) 评估不同馆藏的通用分析策略对基因的影响
发现结果。最后,我们将利用混合来 3a) 扩展我们的祖先信息框架来量化
局部和远端的基因-基因相互作用; 3b) 描述等位基因效应大小差异的趋势
具有对环境的控制能力的祖先组件。这些努力填补了现有资源和
消除将代表性不足的人群纳入医学基因组学的障碍。这项工作直接符合
NIH/NHGRI 的战略使命是关注包容性和多样性,强调关键性和及时性
拟议项目的。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(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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