COPDGene Cohort Study with Imaging Data
Samuel wants to study chronic obstructive pulmonary disease (COPD), which is a chronic inflammatory lung disease that causes obstructed airflow from the lungs. He wants to search, explore, review and annotate chest CT images, as well as analyze genomic and phenotypic research data. Eventually, he'd like to integrate all of this data for use in a GWAS or PheWAS.
Samuel could go to dbGaP to access genetic variants and CT imaging data. However, only a fraction of the imaging data is currently available there. To make things even more difficult for Samuel, the format of the imaging data in dbGaP would be challenging to use.
With Data Commons Phase 1:
With his Data Commons ID, Samuel can log into COPDGene, a NHLBI-funded study of more than 10,000 subjects designed to understand the risk factors, heterogeneity, and progression of COPD. This database contains whole genome sequencing of the entire cohort which has been obtained in collaboration with TOPMed, as well as chest CT scans that have been obtained for the entire COPDGene cohort.
With Data Commons longer vision:
User narratives for this summary:
- NARRATIVE-20: COPDGene Cohort Study with Imaging Data - Perform clinical genomic study using COPDGene data