Article
Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease.
American journal of respiratory and critical care medicine - 15 Jun 2016
Qiao Dandi, Lange Christoph, Beaty Terri H, Crapo James D, Barnes Kathleen C, Bamshad Michael, Hersh Craig P, Morrow Jarrett, Pinto-Plata Victor M, Marchetti Nathaniel, Bueno Raphael, Celli Bartolome R, Criner Gerald J, Silverman Edwin K, Cho Michael H
Abstract excerpt
RATIONALE: Genomic regions identified by genome-wide association studies explain only a small fraction of heritability for chronic obstructive pulmonary disease (COPD). Alpha-1 antitrypsin deficiency shows that rare coding variants of large effect also influence COPD susceptibility. We hypothesized that exome sequencing in families identified through a proband with severe, early-onset COPD would identify...
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