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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 23, 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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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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Using genomic profiling for understanding and improving response to smoking cessation treatment.
Bierut Laura J et al. Current epidemiology reports 2022 6(4) 486-490
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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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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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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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Disease-associated gut microbiome and metabolome changes in patients with chronic obstructive pulmonary disease
KL Bowerman et al, Nature Medicine, November 18, 2020
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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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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The therapeutic potential of exosomes
J Madhusoodanan, Nature Outlook, May 13, 2020
Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.
Veith Martina et al. International journal of chronic obstructive pulmonary disease 2019 142535-2542
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Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Brantly Mark et al. Orphanet journal of rare diseases 2020 Apr 15(1) 96
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Alpha-1 Antitrypsin Deficiency and Pregnancy.
Gaeckle Nate T et al. COPD 2020 Apr 1-7
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Screening for chronic obstructive pulmonary disease with artificial intelligence
JE Bibault et al, Lancet Digital Health, April 21, 2020
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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Causal relationships between obesity and the leading causes of death in women and men.
Censin Jenny C et al. PLoS genetics 2019 Oct 15(10) e1008405
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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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Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease.
Prokopenko Dmitry et al. American journal of respiratory cell and molecular biology 2018 59(5) 614-622
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Local Coverage Determination (LCD): Biomarker Testing for Neuroendocrine Tumors/Neoplasms (L37851)
The U.S. Centers for Medicare & Medicaid Services
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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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 23, 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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