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

项目总结/文摘

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.