Article
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Human molecular genetics - 1 Nov 2018
Qiao Dandi, Ameli Asher, Prokopenko Dmitry, Chen Han, Kho Alvin T, Parker Margaret M, Morrow Jarrett, Hobbs Brian D, Liu Yanhong, Beaty Terri H, Crapo James D, Barnes Kathleen C, Nickerson Deborah A, Bamshad Michael, Hersh Craig P, Lomas David A, Agusti Alvar, Make Barry J, Calverley Peter M A, Donner Claudio F, Wouters Emiel F, Vestbo Jørgen, Paré Peter D, Levy Robert D, Rennard Stephen I, Tal-Singer Ruth, Spitz Margaret R, Sharma Amitabh, Ruczinski Ingo, Lange Christoph, Silverman Edwin K, Cho Michael H
Abstract excerpt
Chronic obstructive pulmonary disease (COPD), one of the leading causes of death worldwide, is substantially influenced by genetic factors. Alpha-1 antitrypsin deficiency demonstrates that rare coding variants of large effect can influence COPD susceptibility. To identify additional rare coding variants in patients with severe COPD, we conducted whole exome sequencing analysis in 2543 subjects from two...
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