Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.

Wonji KimJulian HeckerR Graham BarrEric BoerwinkleBrian CadeAdolfo CorreaJosée DupuisSina A GharibLeslie LangeStephanie J LondonAlanna C MorrisonGeorge T O'ConnorElizabeth C OelsnerBruce M PsatyRamachandran S VasanSusan RedlineStephen S RichJerome I RotterBing YuChristoph LangeAni ManichaikulJin J ZhouTamar SoferEdwin K SilvermanDandi QiaoMichael H Chonull null

Published in: Human molecular genetics (2022)

Our study provides updated and unbiased estimates of heritability for COPD and lung function, and suggests an important contribution of rare variants. Larger studies of more diverse ancestry will improve accuracy of these estimates.

Keyphrases

lung function
chronic obstructive pulmonary disease
cystic fibrosis
air pollution
electronic health record
gene expression
dna methylation
machine learning
genome wide association study
data analysis
artificial intelligence