-
Article
Open AccessUnsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction
Although high-dimensional clinical data (HDCD) are increasingly available in biobank-scale datasets, their use for genetic discovery remains challenging. Here we introduce an unsupervised deep learning model, ...
-
Article
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
-
Article
Open AccessPlasma metabolomics and quantitative interstitial abnormalities in ever-smokers
Quantitative interstitial abnormalities (QIA) are an automated computed tomography (CT) finding of early parenchymal lung disease, associated with worse lung function, reduced exercise capacity, increased resp...
-
Article
Open AccessAuthor Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
-
Article
Open AccessLarge scale proteomic studies create novel privacy considerations
Privacy protection is a core principle of genomic but not proteomic research. We identified independent single nucleotide polymorphism (SNP) quantitative trait loci (pQTL) from COPDGene and Jackson Heart Study...
-
Article
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models
Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide, is highly heritable. While COPD is clinically defined by applying thresholds to summary measures of lung function, a qu...
-
Article
Open AccessIdentifying chronic obstructive pulmonary disease from integrative omics and clustering in lung tissue
Chronic obstructive pulmonary disease (COPD) is a highly morbid and heterogenous disease. While COPD is defined by spirometry, many COPD characteristics are seen in cigarette smokers with normal spirometry. Th...
-
Article
Open AccessMulti-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising ...
-
Article
Open AccessX chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
The association between genetic variants on the X chromosome to risk of COPD has not been fully explored. We hypothesize that the X chromosome harbors variants important in determining risk of COPD related phe...
-
Article
Open AccessMulti-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide association study (GWAS) summary statistics, who...
-
Article
Open AccessBlood gene expression risk profiles and interstitial lung abnormalities: COPDGene and ECLIPSE cohort studies
Interstitial lung abnormalities (ILA) are radiologic findings that may progress to idiopathic pulmonary fibrosis (IPF). Blood gene expression profiles can predict IPF mortality, but whether these same genes as...
-
Article
Open AccessLung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis
Chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are characterized by shared exposures and clinical features, but distinct genetic and pathologic features exist. These featu...
-
Article
Open AccessA genome-wide association study of quantitative computed tomographic emphysema in Korean populations
Emphysema is an important feature of chronic obstructive pulmonary disease (COPD). Genetic factors likely affect emphysema pathogenesis, but this question has predominantly been studied in those of European an...
-
Article
Open AccessSecondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors
Secondary polycythemia is associated with cigarette smoking and chronic obstructive pulmonary disease (COPD). However, the prevalence of polycythemia in COPD and the contributing risk factors for polycythemia ...
-
Article
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
An amendment to this paper has been published and can be accessed via a link at the top of the paper
-
Article
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 2...
-
Article
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association st...
-
Article
Open AccessMultiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function
Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. We extend previous research by meta-analyzing genome-wide association studies of 100...
-
Article
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
Michael Cho and colleagues report a genome-wide association study of risk for chronic obstructive pulmonary disease (COPD) in a large, multi-ancestry cohort. They identify 22 genome-wide significant loci, incl...
-
Article
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets
Louise Wain, Ian Hall, Martin Tobin and colleagues report genome-wide association analyses of lung function, identifying 43 new signals associated with one or more lung function traits. A genetic risk score de...
