# Powering whole genome sequence-based genetic discovery for common human diseases

> **NIH NIH U01** · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · 2020 · $884,756

## Abstract

PROJECT SUMMARY/ABSTRACT
The coming NHGRI Centers for Common Disease Genomics (CCDG) and Centers for Mendelian Genomics
(CMG) plan to generate whole genome sequencing (WGS) data on over 200,000 individuals. WGS will provide
comprehensive and complete genetic data across coding and non-coding variation, presenting an
unprecedented opportunity for discovery in the genetic analysis of human diseases. However, a lack of
powerful analytic tools that fully realize the potential of these data has emerged as a bottleneck for effectively
translating rich information contained in these massive WGS data into meaningful insights about human
diseases. There is a pressing need to develop powerful and robust analytic methods for WGS that can
accelerate genetic discoveries. To meet this need, we have assembled an interdisciplinary team of
computational biologists, geneticists, and statisticians. Building on our extensive track record in sequencing
studies, statistical genetics, functional analysis and computational biology, we will power the next round of
genetic discoveries by (1) building a massive WGS control sample and developing the methods for
incorporating these controls in studies of complex and Mendelian diseases; (2) creating more powerful
statistical methods for rare variant analysis through the incorporation of functional and regulatory information
and advanced statistical tools; (3) establishing methods to analyze multiple phenotypes to boost the power for
association and understand how different phenotypes relate genetically. These methods will enhance our
ability to identify novel associations across a wide range of genetic architectures, from Mendelian diseases
driven by a strong acting allele to complex polygenic traits. Novel associations promise to lay the foundation for
gaining new insight into the biological mechanisms driving disease and be the bedrock for precision prevention
and medicine strategies. We will collaborate with the investigators of the Genome Sequencing Program, and
will share the developed data resources, tools and methods with the community through user-friendly open
source software and educational modules.

## Key facts

- **NIH application ID:** 10085285
- **Project number:** 3U01HG009088-04S2
- **Recipient organization:** HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH
- **Principal Investigator:** XIHONG LIN
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $884,756
- **Award type:** 3
- **Project period:** 2020-03-01 → 2022-09-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10085285

## Citation

> US National Institutes of Health, RePORTER application 10085285, Powering whole genome sequence-based genetic discovery for common human diseases (3U01HG009088-04S2). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10085285. Licensed CC0.

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