# A Platform for Large-Scale Discovery in Common Disease

> **NIH NIH UM1** · WASHINGTON UNIVERSITY · 2020 · $13,031,931

## Abstract

PROJECT SUMMARY
This supplement will continue to fund our Center for Common Disease Genomics (UM1HG008853) at the
McDonnell Genome Institute at Washington University entitled, “A platform for large-scale discovery in common
disease.” In the supplemental period we will continue our multi-ethnic case-control whole genome sequencing
(WGS) study focused on mapping novel disease genes and variants underlying risk and protection from early-
onset coronary artery disease (EOCAD). Along with EOCAD cases, we aim to select deeply phenotyped controls
whenever possible in order to study the genetic basis of quantitative cardiometabolic risk factors. After
completing the WGS, we will assemble a joint callset that includes all EOCAD cases and controls from our center
to enable association testing between genotypes and disease outcomes. Genotypes for the primary analysis will
include testing common (individual) and rare (burden) single nucleotide variants (SNVs), insertion/deletion
variants (indels), and structural variants (SVs) across coding and non-coding space. In secondary analyses, we
will test for association with quantitative cardiometabolic risk factor traits and will leverage differential patterns of
admixture to map causal variants underlying previously mapped disease and trait associated loci. Beyond
disease association studies, we will continue to collaborate with consortium members to create genomic
resources that will be used by the scientific community such as aggregated site frequencies, imputation
resources, and open source analysis methods.

## Key facts

- **NIH application ID:** 9924136
- **Project number:** 3UM1HG008853-04S1
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Ira M Hall
- **Activity code:** UM1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $13,031,931
- **Award type:** 3
- **Project period:** 2016-01-14 → 2022-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9924136

## Citation

> US National Institutes of Health, RePORTER application 9924136, A Platform for Large-Scale Discovery in Common Disease (3UM1HG008853-04S1). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/9924136. Licensed CC0.

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