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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Heart, Lung, Blood and Sleep Disorders
Last data update: Apr 25, 2024
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Genetics of chronic respiratory disease.
Ian Sayers et al. Nat Rev Genet 2024
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Detection of Alpha-1 Antitrypsin Levels in Chronic Obstructive Pulmonary Disease in Respiratory Clinics in Spain: Results of the EPOCONSUL 2021 Audit.
Myriam Calle Rubio et al. J Clin Med 2024 13(4)
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Assessing a Polygenic Risk Score for Lung Cancer Susceptibility in Non-Hispanic White and Black Populations.
Matthew R Trendowski et al. Cancer Epidemiol Biomarkers Prev 2023
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Lung and Gut Microbiome in COPD
E Karakasidis et al, J Per Med, May 8, 2023
Deep learning model improves COPD risk prediction and gene discovery.
et al. Nat Genet 2023
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Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.
Justin Cosentino et al. Nat Genet 2023
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.
Nick Shrine et al. Nature genetics 2023 55(3) 410-422
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Prediction of COPD acute exacerbation in response to air pollution using exosomal circRNA profile and Machine learning.
Meng Qingtao et al. Environment international 2022 168107469
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Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program
X Hu et al, AJHG, April 5, 2022
Biomarker Testing in Older Patients Treated for an Advanced or Metastatic Non-Squamous Non-Small-Cell Lung Cancer: The French ESME Real-Life Multicenter Cohort Experience.
Lamy Tina et al. Cancers 2022 14(1)
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Compelling Interaction of Cigarette Smoking and Polygenetic Risk Emerges for Lung Function and COPD
DB Hancock et al, JAMA Network Open, December 20, 2021
Unmanaged Pharmacogenomic and Drug Interaction Risk Associations with Hospital Length of Stay among Medicare Advantage Members with COVID-19: A Retrospective Cohort Study.
Ashcraft Kristine et al. Journal of personalized medicine 2021 11(11)
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Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome.
Guzmán-Vargas Javier et al. Frontiers in medicine 2021 8725144
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Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
Jardim José R et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2021 47(3) e20200380
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Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.
Kasela Silva et al. Genome medicine 2021 13(1) 66
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Relative contributions of family history and a polygenic risk score on COPD and related outcomes: COPDGene and ECLIPSE studies.
Moll Matthew et al. BMJ open respiratory research 2020 Nov 7(1)
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Comorbidity Associations with AATD Among Commercially Insured and Medicare Beneficiaries with COPD in the US.
Sandhaus Robert et al. International journal of chronic obstructive pulmonary disease 2020 152389-2397
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A randomised controlled feasibility trial of E-health application supported care vs usual care after exacerbation of COPD: the RESCUE trial
M North et al, NPJ Digital Medicine, October 30, 2020
Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.
Moll Matthew et al. The Lancet. Respiratory medicine 2020 8(7) 696-708
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Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.
Lopez-Campos Jose Luis et al. Archivos de bronconeumologia 2020 Jul
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Alpha-1 Antitrypsin Deficiency and Pregnancy.
Gaeckle Nate T et al. COPD 2020 Apr 1-7
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New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency.
Chorostowska-Wynimko Joanna et al. International journal of chronic obstructive pulmonary disease 2020 15345-355
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People at High Risk For Flu Complications
CDC, 2019
The Pharmacogenomics of Inhaled Corticosteroids and Lung Function Decline in COPD.
Obeidat Ma'en et al. The European respiratory journal 2019 Sep
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Biomarkers of DNA damage in COPD patients undergoing pulmonary rehabilitation: Integrating clinical parameters with genomic profiling.
Russo Patrizia et al. Mutation research 2019 Jul 843111-117
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CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1
ClinGen Actionability Working Group
Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians.
Franciosi Alessandro N et al. The Lancet. Respiratory medicine 2019 Jul
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[Selection of lung transplant candidates in France in 2019].
Falque L et al. Revue des maladies respiratoires 2019 Apr 36(4) 508-518
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Blood and sputum protein biomarkers for chronic obstructive pulmonary disease (COPD).
Moon Ji-Yong et al. Expert review of proteomics 2018 15(11) 923-935
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Clinical Epidemiology of COPD: Insights From 10 Years of the COPDGene Study.
Maselli Diego J et al. Chest 2019 May
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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