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

项目概要/摘要 最近的重大努力已经从包括英国在内的大规模生物库中产生了基因组测序数据 生物样本库、范德比尔特BioVU、TOPMed程序等。这些新的数据提供了丰富的环境， 分析人群中罕见的遗传变异，尤其是那些在欧洲血统中不常见的变异 人口。然而，测序产生的数据规模庞大，限制了其分析。 该提案要求提供一次性行政补助金，以建立必要的基础设施， 来自多个大型基因组生物库的初级基因组测序数据的综合分析。

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.