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

NIH RePORTER · NIH · R01 · $179,726 · view on reporter.nih.gov ↗

Abstract

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.

Key facts

NIH application ID
10390207
Project number
3R01GM140287-01S1
Recipient
SCRIPPS RESEARCH INSTITUTE, THE
Principal Investigator
Eric R Gamazon
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$179,726
Award type
3
Project period
2021-03-01 → 2024-11-30