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

> **NIH NIH R01** · SCRIPPS RESEARCH INSTITUTE, THE · 2021 · $179,726

## 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 organization:** SCRIPPS RESEARCH INSTITUTE, THE
- **Principal Investigator:** Eric R Gamazon
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $179,726
- **Award type:** 3
- **Project period:** 2021-03-01 → 2024-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10390207

## Citation

> US National Institutes of Health, RePORTER application 10390207, Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populations (3R01GM140287-01S1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10390207. Licensed CC0.

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