ArticleAMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science2020
Trait Insights Gained by Comparing Genome-Wide Association Study Results using Different Chronic Obstructive Pulmonary Disease Definitions.
Article in AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- PhenoFit: a framework for determining computable phenotyping algorithm fitness for purpose and reuse.Journal of the American Medical Informatics Association : JAMIA · 2026Article
- Identification of clinically meaningful, overlapping obstructive respiratory disease subtypes via data-driven approaches in a primary care population.BMC pulmonary medicine · 2025Article
- Genetics of chronic respiratory disease.Nature reviews. Genetics · 2024Review
- Clarifying Chronic Obstructive Pulmonary Disease Genetic Associations Observed in Biobanks via Mediation Analysis of Smoking.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2024Article
- Polygenic risk scores identify heterogeneity in asthma and chronic obstructive pulmonary disease.The Journal of allergy and clinical immunology · 2023Article
- Revealing polygenic pleiotropy using genetic risk scores for asthma.HGG advances · 2023Article
- Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2021Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Biobanks have facilitated the conduct of large-scale genomics studies, but they are challenged by the difficulty of validating some phenotypes, particularly for complex traits that represent heterogeneous groups ofpatients. The guideline definition of COPD, based on objective spirometry measures, has been preferred in genome-wide association studies (GWAS) conducted with epidemiological cohorts, but spirometry measures are seldom available for biobank participants. Defining COPD based on International Classification of Disease (ICD) codes or self-reported measures is highly feasible in biobanks, but it remains unclear whether the misclassification inherent in these definitions prevent the discovery of genetic variants that contribute to COPD. We found that while there was poor agreement in classification of UK Biobank participants as having COPD based on ICD diagnosis codes, self-reported doctor diagnosis or spirometry measures, contrasting GWAS results for these definitions provided insights into what patient characteristics each trait may capture.
Identifiers
32477647PMC7233028W3032249307What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.