Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populations

基因和亚型表达的单倍型感知模型及其应用于不同人群疾病遗传学研究

• 批准号: 10390207
• 负责人: Eric R Gamazon
• 金额: $ 17.97万
• 依托单位: SCRIPPS RESEARCH INSTITUTE, THE
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-03-01 至 2024-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10390207
• 关键词: Administrative Supplement; Awareness; Data; Disease; Environment; European; Genes; Genetic study; Genomics; Haplotypes; Human; Infrastructure; Modeling; Population; Population Heterogeneity; Protein Isoforms; Request for Proposals; Time; Trans-Omics for Precision Medicine; biobank; genetic variant; genome sequencing; improved; large scale data; programs

Project summary/abstract Recent major efforts have generated genome sequencing data from large-scale biobanks, including the UK Biobank, Vanderbilt BioVU, TOPMed program, and others. These new data provide a rich environment for the analysis of rare genetic variants in human populations, especially those uncommon in European ancestry populations. However, the sheer scale of the data generated by sequencing poses a limitation for their analysis. This proposal requests a one-time administrative supplement to establish the necessary infrastructure for integrative analysis of primary genome sequencing data from multiple large genomic biobanks.

项目摘要/摘要 最近的重大努力产生了来自包括英国在内的大规模生物库的基因组测序数据 Biobank，Vanderbilt Biovu，Topmed计划等。这些新数据为 分析人群中罕见的遗传变异，尤其是欧洲血统中罕见的遗传变异 人群。但是，通过测序产生的数据的纯粹范围对其分析构成了限制。 该提案要求一次性管理补充，以建立必要的基础架构 来自多个大型基因组生物库的主要基因组测序数据的整合分析。