Applying Functional Genomics to Chronic Obstructive Pulmonary Disease
Year: 2018
Type: article
Abstract: Genome-wide association studies (GWAS) have identified more than 20 genomic regions associated with chronic obstructive pulmonary disease (COPD) susceptibility. However, the functional genetic variants within these COPD GWAS loci remain largely unidentified, thus limiting translation of these GWAS discoveries to new disease insights. Whole-exome and whole-genome sequencing studies have the potential to identify rare genetic determinants of COPD. Efforts to understand the biological effects of novel COPD genetic loci include gene-targeted murine models, integration of additional omics data (including transcriptomics and epigenetics), and functional variant identification. COPD genetic determinants likely act through biological networks, and a variety of network-based approaches have been used to gain insights into COPD susceptibility and heterogeneity.
Author: Edwin K. Silverman
Institutions: Brigham and Women's Hospital, Harvard University
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: Functional Genomic Approaches to Dissect COPD GWAS Loci, Identifying Genetic Determinants of Severe, Early-Onset COPD, Identifying functional variants in COPD GWAS loci, (2 of 2) Genetic Epidemiology of COPD, Aspen Lung Conference on COPD: Translating Resilience and Pathogenesis to Personalized Therapy for COPD, G9000228787, COPD Susceptibility, Heterogeneity, and Progression: Proteomics and Genetics, Distinct and Overlapping Pathways of Fibrosis and Emphysema in Cigarette Smokers
OpenAlex ID: W2904102960