Characterizing the Global Architecture of Genomic Diversity

描述基因组多样性的全球结构

• 批准号: 8537229
• 负责人: Jeffrey M Kidd
• 金额: $ 37.02万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 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 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8537229
• 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

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.

NIH 院长早期独立奖的这项提案旨在 通过实现基因组学改善所有人健康的承诺 对人类基因组的全球架构有更全面的了解 多样性。这将通过表征全球基因组多样性来实现， 包括人口背景下的顺序和结构变化 人类的历史。为了实现这一目标，我们提出了三个具体的建议 目标：(1) 改进对人类人口历史和全球多样性的描述， (2) 评估人口统计历史对功能变异和推论的影响 古代对人类变异的贡献以及（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 研究将提供有关全球患病率和 未确定的变异类型的特征，澄清重要的 人类人口历史的特征，并定义这一现象的持久影响 与现存种群相关的变异历史，包括混合或 基因组包含来自不同地区的片段的世界性人群 大陆血统。了解这些全球多样性模式，包括 序列和结构变体，对于正确执行和 对旨在阐明疾病遗传基础的研究的解释 不同人群的易感性。