A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

doi:10.1152/ajplung.00009.2021

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Article

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

American journal of physiology. Lung cellular and molecular physiology - 1 Jul 2021

Moll Matthew, Jackson Victoria E, Yu Bing, Grove Megan L, London Stephanie J, Gharib Sina A, Bartz Traci M, Sitlani Colleen M, Dupuis Josée, O'Connor George T, Xu Hanfei, Cassano Patricia A, Patchen Bonnie Kaufmann, Kim Woo Jin, Park Jinkyeong, Kim Kun Hee, Han Buhm, Barr R Graham, Manichaikul Ani, Nguyen Jennifer N, Rich Stephen S, Lahousse Lies, Terzikhan Natalie, Brusselle Guy, Sakornsakolpat Phuwanat, Liu Jiangyuan, Benway Christopher J, Hall Ian P, Tobin Martin D, Wain Louise V, Silverman Edwin K, Cho Michael H, Hobbs Brian D

Abstract excerpt

Genome-wide association studies (GWASs) have identified regions associated with chronic obstructive pulmonary disease (COPD). GWASs of other diseases have shown an approximately 10-fold overrepresentation of nonsynonymous variants, despite limited exonic coverage on genotyping arrays. We hypothesized that a large-scale analysis of coding variants could discover novel genetic associations with COPD, including rare...

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PMID: 33909500
DOI: 10.1152/ajplung.00009.2021
PMCID: PMC8321852

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