TY - JOUR
T1 - Bottlenecks in advancing and applying multiomic data integration—common data resources as rate-limiting drivers—the high-impact use case of atherosclerotic cardiovascular disease
AU - Bezzina Wettinger, Stephanie
AU - Karaduzovic-Hadziabdic, Kanita
AU - Attard, Ritienne
AU - Farrugia, Rosienne
AU - Wolford, Brooke N.
AU - Chierici, Marco
AU - Jurman, Giuseppe
AU - Alexiou, Panagiotis
AU - Peñalvo, José L.
AU - Costa, Rafael S.
AU - Basílio, José
AU - Sabovčik, František
AU - Vitorino, Rui
AU - Schmid, Johannes A.
AU - Shigdel, Rajesh
AU - Vilne, Baiba
AU - Hatzigeorgiou, Artemis G.
AU - Sopic, Miron
AU - Devaux, Yvan
AU - Magni, Paolo
AU - Tellez-Plaza, Maria
AU - Kreil, David P.
AU - Gruca, Aleksandra
N1 - Publisher Copyright:
© The Author(s) 2025. Published by Oxford University Press.
PY - 2025/9/1
Y1 - 2025/9/1
N2 - 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.
AB - 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.
KW - algorithm generalizability
KW - atherosclerotic cardiovascular disease (ASCDV)
KW - common data resources
KW - data diversity
KW - multiomic data integration
UR - https://www.scopus.com/pages/publications/105018397938
U2 - 10.1093/bib/bbaf526
DO - 10.1093/bib/bbaf526
M3 - Review article
C2 - 41071609
AN - SCOPUS:105018397938
SN - 1467-5463
VL - 26
JO - Briefings in Bioinformatics
JF - Briefings in Bioinformatics
IS - 5
M1 - bbaf526
ER -