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).

Link

dbGaP study = phs000422

Stichworte

  1. 31.07.22 31.07.22 - Chiara Middel
  2. 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)

Subject - Sample Mapping

pht003224
Beschreibung

pht003224

Subject ID
Beschreibung

SUBJID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beschreibung

SAMPID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Beschreibung

SAMPLE_USE

Datentyp

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C2347026

Ähnliche Modelle

Subject - Sample Mapping

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht003224
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Sample Use
text
C1524063 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
Whole exome sequencing data available through SRA (WES_SRA)
C3640077 (UMLS CUI [1,1])

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