Article
Extreme Trait Whole-Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction.
American journal of respiratory and critical care medicine - 15 Jul 2017
Radder Josiah E, Zhang Yingze, Gregory Alyssa D, Yu Shibing, Kelly Neil J, Leader Joseph K, Kaminski Naftali, Sciurba Frank C, Shapiro Steven D
Abstract excerpt
RATIONALE: Genetic association studies in chronic obstructive pulmonary disease have primarily tested for association with common variants, the results of which explain only a portion of disease heritability. Because rare variation is also likely to contribute to susceptibility, we used whole-genome sequencing of subjects with clinically extreme phenotypes to identify genomic regions enriched for rare variation...
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