An international team from Cardio-CARE in Davos, the University Hospital of Zurich, and the University Medical Center Hamburg-Eppendorf is developing key strategies for collecting high-quality data in large-scale genetic studies.
The project aims to investigate the genetic factors that contribute to cardiovascular and other diseases. The work is based on the largest whole-genome sequencing study conducted in the German-speaking region. It includes more than 9,000 residents of Hamburg who participated in the Hamburg City Health Study (HCHS), the world’s largest local cohort study.
The samples were processed at University Hospital Zurich using state-of-the-art Illumina technology. One challenge associated with studies of this scale is the volume of raw data generated, which exceeds the storage capacity of 1,000 laptops. Cardio-CARE stores, processes and analyses all data on its local high-performance computing system. To reduce the volume of data, Cardio-CARE became the first group to publish a study applying an advanced compression technology developed by Illumina, reducing the required storage capacity to less than 20% of the original data size. This approach not only saves storage space but also makes data management more efficient.
Now that the genetic data have been validated through quality-control procedures, the research teams can proceed to the next exciting phase: identifying associations between individuals’ DNA and disease.
The sequencing was funded by the Kühne Foundation.
The full study is available in the Biometrical Journal: Betschart, R. O., Riccio, C., Aguilera-Garcia, D., Blankenberg, S., Guo, L., Moch, H., Seidl, D., Solleder, H., Thalén, F., Thiéry, A., Twerenbold, R., Zeller, T., Zoche, M. and Ziegler, A. (2024). Biostatistische Aspekte von Whole-Genome-Sequenzierungsstudien: Vorverarbeitung und Qualitätskontrolle. Biometrical Journal, 66, e202300278. DOI: 10.1002/bimj.202300278