Characterizing the Global Architecture of Genomic Diversity

描述基因组多样性的全球结构

基本信息

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
项目类别：
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

项目摘要

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。为实现这一目标，我们提出了三项具体措施目标：(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。