Characterizing the Global Architecture of Genomic Diversity

描述基因组多样性的全球结构

• 批准号: 8213131
• 负责人: Jeffrey M Kidd
• 金额: --
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-09-20 至 2011-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8213131
• 关键词: 17q21; Address; Admixture; African; Alleles; Americas; Architecture; Attention; Award; Characteristics; Chromosome inversion; Data; Data Set; Demographic Impact; Demography; Diagnostic; Disease; Disease susceptibility; European; Event; Foundations; Gene Frequency; Genes; Genetic; Genetic Research; Genetic Variation; Genome; Genomics; Genotype; Growth; Health; Human; Human Characteristics; Human Genome; Individual; Knowledge; Medical Genetics; Methods; Mitochondria; Modeling; Mutation; Nature; Pattern; Phase; Play; Population; Population Genetics; Population Heterogeneity; Predisposition; Prevalence; Process; Property; Reading; Recording of previous events; Research; Research Design; Research Personnel; Role; Shapes; Structure; Technology; Time; United States National Institutes of Health; Variant; Y Chromosome; autosome; base; design; disorder risk; experience; genetic association; genetic variant; genome sequencing; genome-wide; human disease; improved; meetings; population migration; programs; structural genomics

DESCRIPTION (provided by applicant): This proposal for the NIH Director's Early Independence Award is designed to realize the promise of genomics for improving health of all people by achieving a more complete understanding of the global architecture of human genomic diversity. This will be achieved by characterization global genomic diversity, including sequence and structural variation, in the context of the demographic history of human populations. To achieve this objected we propose three specific aims: (1) improve description of human demographic history and global diversity, (2) assess impact of demographic history on functional variation and inferences of archaic contributions to human variation and (3) develop methods to genotype genomic structural variation using short-read sequencing. The proposed research will provide essential information concerning the global prevalence and characteristics of under-ascertained variant types, clarify important characteristics of human population history, and define the lasting effects of this history on variation that is relevant for extant populations, including admixed or cosmopolitan populations whose genomes include segments from diverse continental ancestries. Understanding these global patterns of diversity, including sequence and structural variants, will be critical for proper execution and interpretation of studies designed to elucidate the genetic basis for disease susceptibility in diverse human populations. PUBLIC HEALTH RELEVANCE: Some genetic variants play an important role in altering susceptibility to human disease. These variants include both changes to the sequence and to the structure of genomes, and are known to vary across global populations. A more comprehensive understanding the nature of global patterns of genetic diversity will aid researchers in the identification of genetic variants relevant to disease risk in populations today.

描述（由申请人提供）：这项 NIH 主任早期独立奖提案旨在通过更全面地了解人类基因组多样性的全球架构，实现基因组学改善所有人健康的承诺。这将通过在人类人口统计历史的背景下描述全球基因组多样性（包括序列和结构变异）来实现。为了实现这一目标，我们提出了三个具体目标：（1）改进对人类人口历史和全球多样性的描述，（2）评估人口历史对功能变异的影响以及对人类变异的古老贡献的推论，以及（3）开发基因分型方法使用短读长测序的基因组结构变异。拟议的研究将提供有关尚未确定的变异类型的全球患病率和特征的重要信息，阐明人类人口历史的重要特征，并确定这段历史对与现存人口（包括混合人口或世界性人口）相关的变异的持久影响其基因组包含来自不同大陆血统的片段。了解这些全球多样性模式，包括序列和结构变异，对于正确执行和解释旨在阐明不同人群疾病易感性遗传基础的研究至关重要。 公共卫生相关性：一些遗传变异在改变人类疾病的易感性方面发挥着重要作用。这些变异包括基因组序列和结构的变化，并且已知在全球人群中存在差异。更全面地了解全球遗传多样性模式的本质将有助于研究人员识别与当今人群疾病风险相关的遗传变异。