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Study Description

The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO.

The exome sequencing asthma project includes 200 African-Americans with asthma from the NHLBI multicenter Severe Asthma Research Program (SARP). SARP participants were recruited at the NHLBI SARP sites with an emphasis on recruiting severe asthmatics (Moore et al., Am J Respir Crit Care Med, 2010. PMID: 19892860). Asthma status was based on both a physician's diagnosis and either bronchodilator reversibility or hyper-responsiveness to methacholine as well as less than 5 pack years of smoking. All subjects were carefully characterized using the standardized SARP protocol which included spirometry (medication withheld), maximum bronchodilator reversibility, hyper-responsiveness to methacholine (not performed in subjects with low baseline FEV1), skin-tests to common allergens, questionnaires on health care utilization and medication use and sputum, lung imaging and bronchoscopy in a subset. In addition GWAS data are available (phs000355, Illumina platform).

  • Study Type: Case Set
  • Number of study subjects that have individual level data available through Authorized Access: 191

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Cases with asthma were excluded if they did not meet inclusion criteria or had a diagnosis of a respiratory disease besides asthma.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Exome Sequencing Illumina Genome Analyzer IIX N/A N/A
Exome Sequencing Illumina HiSeq 2000 N/A N/A
Study History

The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. The NHLBI Severe Asthma Research Program (SARP: phases I and II) were designed to study subjects from multiple ethnic groups with mild to severe asthma (non-smokers) to understand the progression of disease from mild to severe and gain insights into new approaches for treatment and prevention of disease progression.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Other NCBI Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Deborah A. Meyers, PhD. Wake Forest School of Medicine, Winston-Salem, NC, USA
    • Michael Bamshad, MD. University of Washington, Seattle, WA, USA
    • Kathleen Barnes, PhD. Johns Hopkins University, Baltimore, MD, USA
  • Funding Source
    • 1RC2HL102923. National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
  • Sequencing Center
    • Deborah Nickerson, PhD. University of Washington, Seattle, WA, USA