ID
45216
Beschreibung
Principal Investigator: Deborah A. Meyers, PhD, Wake Forest School of Medicine, Winston-Salem, NC, USA MeSH: Asthma,Respiratory Function Tests https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000422 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).
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Stichworte
Versionen (2)
- 31.07.22 31.07.22 - Chiara Middel
- 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber
Deborah A. Meyers, PhD, Wake Forest School of Medicine, Winston-Salem, NC, USA
Hochgeladen am
12. Oktober 2022
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs000422 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Asthma)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Subject - Sample Mapping
- The dataset contains phenotype data, including BMI, height/weight, white blood cell counts (lymphocytes, monocytes, neutrophils),and general demographic information.
- The dataset contains information about sample and tumor type (tumor/normal; primary/not), somatic location of sample tissue source, the extent of the tumor (tumor percent), etc..
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Subject - Sample Mapping
- The dataset contains phenotype data, including BMI, height/weight, white blood cell counts (lymphocytes, monocytes, neutrophils),and general demographic information.
- The dataset contains information about sample and tumor type (tumor/normal; primary/not), somatic location of sample tissue source, the extent of the tumor (tumor percent), etc..
C0680251 (UMLS CUI [1,2])
C0004096 (UMLS CUI [2,1])
C5236167 (UMLS CUI [2,2])
C0004096 (UMLS CUI [3,1])
C0011900 (UMLS CUI [3,2])
C0205394 (UMLS CUI [3,3])
C0035242 (UMLS CUI [3,4])
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