The Whole Genome Sequencing Project

Cardiovascular diseases (CVDs) are a group of disorders of the heart and blood vessels and include coronary heart disease, cerebrovascular disease, atrial fibrillation, and other conditions. CVDs are the number one cause of death globally, leading to an estimated 18.6 million deaths in 2019, which is roughly 30% of all deaths across the globe. In Europe, CVDs remain a major cause of morbidity and mortality.
CVDs are complex diseases, with both genetic and environmental factors playing important roles in their development and progression. In the past decade, genetic association studies, including genome-wide association analysis, have uncovered dozens of DNA variations associated with various CVDs. However, the identified genetic factors only explain to a very limited extent why some people develop a CVD, others not, and the underlying mechanisms can still not be explained.

The revolution of the high-throughput sequencing technologies has enabled the application of whole genome sequencing (WGS) to studies with large sample sizes. WGS is a comprehensive method for analyzing the entire human genome, providing a high-resolution, base-by-base view of each chromosome.
In the Whole Genome Sequencing Project, 9,000 samples from Hamburg, Germany went through WGS at the University Hospital Zurich (USZ). Detailed disease outcomes as well as comprehensive lab measurements have been collected for these sequenced samples at the University Medical Center Hamburg-Eppendorf (UKE). Pre-processing and quality control of the WGS data, followed by statistical analysis with disease outcomes are performed at Cardio-CARE in Davos.