Bottlenecks in advancing and applying multiomic data integration—common data resources as rate-limiting drivers—the high-impact use case of atherosclerotic cardiovascular disease

  • Stephanie Bezzina Wettinger
  • , Kanita Karaduzovic-Hadziabdic
  • , Ritienne Attard
  • , Rosienne Farrugia
  • , Brooke N. Wolford
  • , Marco Chierici
  • , Giuseppe Jurman
  • , Panagiotis Alexiou
  • , José L. Peñalvo
  • , Rafael S. Costa
  • , José Basílio
  • , František Sabovčik
  • , Rui Vitorino
  • , Johannes A. Schmid
  • , Rajesh Shigdel
  • , Baiba Vilne
  • , Artemis G. Hatzigeorgiou
  • , Miron Sopic
  • , Yvan Devaux
  • , Paolo Magni
  • Maria Tellez-Plaza (Corresponding Author), David P. Kreil (Corresponding Author), Aleksandra Gruca (Corresponding Author)

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)

Abstract

Despite striking successes in identifying novel biomarkers for improved patient stratification and predicting disease progression, numerous challenges remain in the effective integration and exploitation of multiomic data in biomedical applications beyond cancer, for which most bioinformatics strategies are developed and validated. That focus on cancer severely limits the effective development and advancement of algorithms in machine learning and artificial intelligence that do not suffer degraded out-of-domain performance. Generalizability and interpretability of models, however, are also required for robust insights that may translate into clinical practice. Work across different independent datasets is critical for establishing models robust towards unwanted variation in assays, protocols, and cohort populations. Disease-specific context like ethnicity, socioeconomic background, sex, lifestyle, disease phase, and tissue type also strongly affect molecular profiles. We here discuss atherosclerotic cardiovascular disease (ASCVD) as a high-impact non-cancer use case for the challenges remaining in the development and application of the latest bioinformatics approaches to multiomics data integration. ASCVD remains the leading cause of death globally. Disease aetiology, progression, and therapy outcome depend on a complex interplay of genetic, environmental, and lifestyle factors. Integrating these diverse data types effectively remains a challenge but holds transformative potential for personalized medicine. Discovery and access to data of sufficient diversity and extent form key bottlenecks. We here compile a first comprehensive overview of key data sets in ASCVD to complement the established cancer-focused resources as a foundation for future effective development and application of state-of-the-art bioinformatics tools for multiomic data integration.

Original languageEnglish
Article numberbbaf526
JournalBriefings in Bioinformatics
Volume26
Issue number5
DOIs
Publication statusPublished - 1 Sept 2025

Keywords*

  • algorithm generalizability
  • atherosclerotic cardiovascular disease (ASCDV)
  • common data resources
  • data diversity
  • multiomic data integration

Field of Science*

  • 1.6 Biological sciences
  • 1.2 Computer and information sciences
  • 3.1 Basic medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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