Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models

J Cosentino, B Behsaz, B Alipanahi, ZR McCaw… - Nature Genetics, 2023 - nature.com
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 …

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

P Sakornsakolpat, D Prokopenko, M Lamontagne… - Nature …, 2019 - nature.com
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality
worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed …

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

LV Wain, N Shrine, MS Artigas, AM Erzurumluoglu… - Nature …, 2017 - nature.com
Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function
and is the third leading cause of death globally. Through genome-wide association …

Disease progression modeling in chronic obstructive pulmonary disease

AL Young, FJS Bragman, B Rangelov… - American journal of …, 2020 - atsjournals.org
Rationale: The decades-long progression of chronic obstructive pulmonary disease (COPD)
renders identifying different trajectories of disease progression challenging. Objectives: To …

Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts

M Moll, P Sakornsakolpat, N Shrine… - The Lancet …, 2020 - thelancet.com
Background Genetic factors influence chronic obstructive pulmonary disease (COPD) risk,
but the individual variants that have been identified have small effects. We hypothesised that …

Refining susceptibility loci of chronic obstructive pulmonary disease with lung eqtls

M Lamontagne, C Couture, DS Postma, W Timens… - PloS one, 2013 - journals.plos.org
Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of mortality
worldwide. Recent genome-wide association studies (GWAS) have identified robust …

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

N Shrine, AL Guyatt, AM Erzurumluoglu, VE Jackson… - Nature …, 2019 - nature.com
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 …

Machine learning and prediction of all-cause mortality in COPD

M Moll, D Qiao, EA Regan, GM Hunninghake, BJ Make… - Chest, 2020 - Elsevier
Background COPD is a leading cause of mortality. Research Question We hypothesized that
applying machine learning to clinical and quantitative CT imaging features would improve …

Integration of multi-omics datasets enables molecular classification of COPD

CX Li, CE Wheelock, CM Sköld… - European Respiratory …, 2018 - Eur Respiratory Soc
Chronic obstructive pulmonary disease (COPD) is an umbrella diagnosis caused by a
multitude of underlying mechanisms, and molecular sub-phenotyping is needed to develop …