DocTIS’ updated study reveals deeper insights into inflammation through single-cell analysis
The study “Interpretable Inflammation Landscape of Circulating Immune Cells“, led by DocTIS partner National Center for Genomic Analysis (CNAG), uses advanced single-cell technology to analyse millions of immune cells from the blood of over a thousand patients with various diseases. The goal is to better understand how inflammation works across different conditions such as infections, autoimmune diseases, and cancer. By creating an atlas -a detailed map of immune cell activity– the researchers identified patterns and key genes involved in inflammation. This builds a clearer picture of how inflammation behaves in the body and lays the groundwork for developing more accurate, personalized tools for diagnosing and treating inflammatory diseases.
Originally published in late 2023 with data from the DocTIS project, the study was updated in April 2025, expanding the atlas in terms of cell numbers, patients, and disease coverage. The updated version includes many improvements: additional data was generated (including the DocTIS’ rheumatoid arthritis validation cohort), new publicly available datasets were collected, and more comprehensive and robust analyses were performed. The dataset has now tripled in size, with over 6.5 million cells from 1,047 patients, and improved methods have been applied to better analyse inflammation across diseases. The data was carefully organized and reprocessed for enhanced quality, with advanced tools used to refine gene selection and disease prediction. Multiple validation scenarios confirmed the reliability of the findings, including unseen patients or patients from unseen studies. Interestingly, the high-quality single-cell transcriptomics data generated in a centralized manner within the DocTIS consortium enabled consistent comparisons across diseases and represents an ideal scenario for improving automated disease diagnosis.
Altogether, these results helped pinpoint current limitations and offer clear guidelines for the next steps toward developing a blood-based diagnostic tool.
With this study, the authors (including DocTIS partners National Center for Genomic Analysis (CNAG), Vall d’Hebron Research Institute (VHIR), Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS, Cardiff University, Charité – Universitätsmedizin Berlin, the University of Verona, and IMIDomics Inc, along with IMID-Biobank at VHIR, EPFL, EMBL-EBI and MGH) lay the groundwork for precision medicine tools that could transform how inflammation-driven diseases are diagnosed and treated.
Th study has been published as a preprint in BioRxiv and is available here: https://www.biorxiv.org/content/10.1101/2023.11.28.568839v2.
