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.

Bottlenecks in advancing and applying multiomic data integration—common data resources as rate-limiting drivers—the high-impact use case of atherosclerotic cardiovascular disease / S. Bezzina Wettinger, K. Karaduzovic-Hadziabdic, R. Attard, R. Farrugia, B.N. Wolford, M. Chierici, G. Jurman, P. Alexiou, J.L. Peñalvo, R.S. Costa, J. Basílio, F. Sabovčik, R. Vitorino, J.A. Schmid, R. Shigdel, B. Vilne, A.G. Hatzigeorgiou, M. Sopic, Y. Devaux, P. Magni, M. Tellez-Plaza, D.P. Kreil, A. Gruca. - In: BRIEFINGS IN BIOINFORMATICS. - ISSN 1467-5463. - 26:5(2025), pp. bbaf526.1-bbaf526.22. [10.1093/bib/bbaf526]

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

P. Magni;
2025

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.
algorithm generalizability; atherosclerotic cardiovascular disease (ASCDV); common data resources; data diversity; multiomic data integration
Settore MEDS-02/A - Patologia generale
Settore MEDS-02/B - Patologia clinica
Settore MEDS-08/A - Endocrinologia
Settore MEDS-08/C - Scienza dell'alimentazione e delle tecniche dietetiche applicate
Settore MEDS-26/A - Scienze tecniche di medicina di laboratorio
2025
Article (author)
File in questo prodotto:
File Dimensione Formato  
bbaf526-1.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Licenza: Creative commons
Dimensione 774.83 kB
Formato Adobe PDF
774.83 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1190042
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
  • OpenAlex 1
social impact