Machine learning for precision diagnostics of autoimmunity.

Journal: Scientific reports
PMID:

Abstract

Early and accurate diagnosis is crucial to prevent disease development and define therapeutic strategies. Due to predominantly unspecific symptoms, diagnosis of autoimmune diseases (AID) is notoriously challenging. Clinical decision support systems (CDSS) are a promising method with the potential to enhance and expedite precise diagnostics by physicians. However, due to the difficulties of integrating and encoding multi-omics data with clinical values, as well as a lack of standardization, such systems are often limited to certain data types. Accordingly, even sophisticated data models fall short when making accurate disease diagnoses and presenting data analyses in a user-friendly form. Therefore, the integration of various data types is not only an opportunity but also a competitive advantage for research and industry. We have developed an integration pipeline to enable the use of machine learning for patient classification based on multi-omics data in combination with clinical values and laboratory results. The application of our framework resulted in up to 96% prediction accuracy of autoimmune diseases with machine learning models. Our results deliver insights into autoimmune disease research and have the potential to be adapted for applications across disease conditions.

Authors

  • Jan Kruta
    School of Life Sciences, FHNW University of Applied Sciences and Arts Northwestern Switzerland, Hofackerstrasse 30, Muttenz, 4132, Switzerland.
  • Raphael Carapito
    Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Institut Thématique Interdisciplinaire TRANSPLANTEX NG, INSERM UMR_S 1109, Fédération Hospitalo-Universitaire OMICARE, Université de Strasbourg, 4 rue Kirschleger, Strasbourg, 67085, France.
  • Marten Trendelenburg
    Division of Internal Medicine, University Hospital Basel, Basel, 4031, Switzerland.
  • Thierry Martin
    Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Institut Thématique Interdisciplinaire TRANSPLANTEX NG, INSERM UMR_S 1109, Fédération Hospitalo-Universitaire OMICARE, Université de Strasbourg, 4 rue Kirschleger, Strasbourg, 67085, France.
  • Marta Rizzi
    Department of Rheumatology and Clinical Immunology, Medical Center, University of Freiburg, 79106, Freiburg, Germany.
  • Reinhard E Voll
    Department of Rheumatology and Clinical Immunology, Medical Center, University of Freiburg, 79106, Freiburg, Germany.
  • Andrea Cavalli
    1] CompuNet, Istituto Italiano di Tecnologia, via Morego 30, 16163 Genova, Italy [2] Department of Pharmacy and Biotechnology, University of Bologna, via Belmeloro 6, 40126 Bologna, Italy.
  • Eriberto Natali
    School of Life Sciences, FHNW University of Applied Sciences and Arts Northwestern Switzerland, Hofackerstrasse 30, Muttenz, 4132, Switzerland.
  • Patrick Meier
    2 Social Innovation Group, Qatar Computing Research Institute (QCRI), Hamad bin Khalifa University (HBKU) , Doha, Qatar .
  • Marc Stawiski
    School of Life Sciences, FHNW University of Applied Sciences and Arts Northwestern Switzerland, Hofackerstrasse 30, Muttenz, 4132, Switzerland.
  • Johannes Mosbacher
    School of Life Sciences, FHNW University of Applied Sciences and Arts Northwestern Switzerland, Hofackerstrasse 30, Muttenz, 4132, Switzerland.
  • Annette Mollet
    Institute of Pharmaceutical Medicine, University of Basel, Basel, 4056, Switzerland.
  • Aurelia Santoro
    Department of Medical and Surgical Science, University of Bologna, Bologna, Italy.
  • Miriam Capri
    Department of Medical and Surgical Science, University of Bologna, Bologna, Italy.
  • Enrico Giampieri
    Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
  • Erik Schkommodau
    School of Life Sciences, FHNW University of Applied Sciences and Arts Northwestern Switzerland, Hofackerstrasse 30, Muttenz, 4132, Switzerland.
  • Enkelejda Miho
    Department for Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland.