WP 5
Multi-Omics Platforms

Dr. Holger Prokisch

AG Leiter, Institut für für Neurogenomik, Helmholtz Zentrum München; AG Leiter, Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München

Prof. Dr. Matthias Mann

Director Department of Proteomics and Signal Transduction, Max-Planck-Institute of Biochemistry

Work Package 5: Multi-Omics Platforms

WP5 provides the technological foundation for DigiMed Bayern: state-of-the-art genomics, transcriptomics, proteomics, and metabolomics platforms. The goal is to analyze and integrate high-throughput molecular data for Work Packages 1–4 in order to develop new biomarkers and personalized prevention strategies.

Key Topics:

  • Genomics & Transcriptomics (WP5.1):
    Sequencing of DNA and RNA to identify genetic variants and expression patterns. Leveraging Helmholtz Munich’s expertise for state-of-the-art analyses.
  • Proteomics & Metabolomics (WP5.2):
    Mass spectrometry-based measurements of proteins and metabolites from blood and tissue. Goal: new biomarkers for CHD, stroke, and heart attack.

Added Value:
AP5 enables comprehensive omics characterization of patients and population groups. The data feeds into the development of predictive algorithms and personalized therapies – a central component of P4 medicine.

Results Work Package 5

Multi-Omics: Genomics, Transcriptomics, Proteomics, and Metabolomics for Personalized Medicine

Overview

Work Package 5 is at the heart of molecular analytics in the DigiMed project and encompasses the development, implementation, and integration of state-of-the-art OMICS technologies (genomics, transcriptomics, proteomics, metabolomics) for cardiovascular research.

Key Results

  • Technological innovations:
    • Introduction and continuous refinement of high-throughput methods such as deepWES (deep whole-exome sequencing), long-read WGS, OLINK targeted proteomics, lipidomics, and metabolomics.
    • Use of dried blood spots for logistically advantageous sample analysis.
    • Development of new bioinformatics analysis pipelines and quality control standards.
  • Successful Sample Analysis:
    • All planned OMICS analyses in the relevant work packages (WP1.1, WP2, WP3, WP4) were successfully completed.
    • In total, tens of thousands of samples were analyzed, including: 
      • 22,000 DNA samples (genotyping)
      • 2,000 RNA sequencings
      • 2,000 DeepWES analyses
      • 1,000 OLINK proteomics
      • 2,000 metabolomics
  • Biomarkers and clinical application:
    • Identification and validation of protein biomarkers for predicting plaque status (stable vs. unstable) in tissue samples and blood plasma.
    • Development of an algorithm for protein-oriented pathway enrichment analysis, made available as a resource on the DigiMed Secure Cloud.
    • Establishment of panels for genetic FH screening (e.g., for the VRONI study).
  • AI-supported analytics:
    • Use of artificial intelligence to analyze OMICS data, e.g., for genetic variant calling, RNA normalization, and the prediction of peptide properties.
  • Sustainability and Outlook:
    • The generated multi-omics datasets represent a unique, high-quality resource for cardiovascular, data-driven, and molecular-based medicine.
    • The ongoing FAIR-compliant processing of all data in the DigiMed Secure Cloud ensures sustainable use and scalability for future research projects.
    • The processes and methods are highly competitive and enable the expansion of genetic screening projects at national and international levels.
Conclusion for Work Package 5

Work Package 5 has laid the molecular foundation for personalized medicine in the DigiMed project using innovative OMICS technologies and AI-driven analytics. The results enable more precise diagnostics, treatment recommendations, and the development of new biomarkers for cardiovascular research – and provide a sustainable foundation for future medical innovations.