Complex trait analysis using low-pass cell-free DNA sequence data

Genomic medicine moves healthcare from being reactive to disease to being predictive to disease onset or from cure to prevention. Next-generation sequencing technologies have leveraged novel concepts to diagnose, treat and monitor diseases. Analysis of free-floating cfDNA from blood or other body fluids - called “liquid biopsy” - represents an emerging tool that enables non-invasive monitoring of tissue dynamics in multiple human physiological and pathological conditions, including pregnancy, cancer and other conditions. The MICADO partners are developing innovative approaches for (epi)genome-wide cfDNA analysis that can lead to novel applications to monitor health and disease. In this project we will increase the cfDNA knowledge base, develop novel analysis tools for mining and integration of cfDNA genomic and epigenome data that could enable development of new liquid biopsy-derived biomarkers. Apart from disease-specific (diagnostic) biomarkers, we will also leverage the full potential of (epi)genomic data for personalized polygenic risk scores assessments to enable patient stratification and guided patient/disease management. The integration of multi-omics data will provide novel and unique approaches for patient stratification, population screening as well as disease detection. Our technology will allow for earlier intervention, improve patient outcomes, increase overall population health and reduce health care costs.