06Jun 2021
A Systematic Analysis of Protein-altering Exonic Variants in Chronic Obstructive Pulmonary Disease

A Systematic Analysis of Protein-altering Exonic Variants in Chronic Obstructive Pulmonary Disease

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 variants with large effect sizes...

  • #pulmonology

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