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In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application
International Journal of Molecular Sciences, 26 (2025), 6; 2568. https://doi.org/10.3390/ijms26062568
Brlek, Petar; Bulić, Luka; Shah, Nidhi; Shah, Parth; Primorac, Dragan

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Brlek, P., Bulić, L., Shah, N., Shah, P. i Primorac, D. (2025). In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application. International Journal of Molecular Sciences, 26. (6). doi: 10.3390/ijms26062568

Brlek, Petar, et al. "In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application." International Journal of Molecular Sciences, vol. 26, br. 6, 2025. https://doi.org/10.3390/ijms26062568

Brlek, Petar, Luka Bulić, Nidhi Shah, Parth Shah i Dragan Primorac. "In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application." International Journal of Molecular Sciences 26, br. 6 (2025). https://doi.org/10.3390/ijms26062568

Brlek, P., et al. (2025) 'In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application', International Journal of Molecular Sciences, 26(6). doi: 10.3390/ijms26062568

Brlek P, Bulić L, Shah N, Shah P, Primorac D. In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application. International Journal of Molecular Sciences [Internet]. 13.03.2025. [pristupljeno 18.03.2025.];26(6). doi: 10.3390/ijms26062568

P. Brlek, L. Bulić, N. Shah, P. Shah i D. Primorac, "In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application", International Journal of Molecular Sciences, vol. 26, br. 6, Ožujak 2025. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:065299. [Citirano: 18.03.2025.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:065299
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Naslov (engleski)In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application
AutorPetar Brlek
AutorLuka Bulić
AutorNidhi Shah
AutorParth Shah
AutorDragan Primorac
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Sažetak (hrvatski)
Cancers of unknown primary (CUPs) represent a significant diagnostic and therapeutic challenge in the field of oncology. Due to the limitations of current diagnostic tools in these cases, novel approaches must be brought forward to improve treatment outcomes for these patients. The objective of this study was to develop a machine-learning-based software for primary cancer site prediction (OncoOrigin), based on genetic data acquired from tumor DNA sequencing. By design, this was an in silico diagnostic study, conducted using data from the cBioPortal database (accessed on 21 September 2024) and several data processing and machine learning Python libraries. The study involved over 20,000 tumor samples with information on patient age, sex, and the presence of genetic variants in over 600 genes. The main outcome of interest was machine-learning-based discrimination between cancer site classes. Model quality was assessed by training set cross-validation and evaluation on a segregated test set. Finally, the optimal model was incorporated with a graphical user interface into the OncoOrigin software. Feature importance for class discrimination was also determined on the optimal model. Out of the four tested machine learning estimators, the XGBoostClassifier-based model proved superior in test set evaluation, with a top-2 accuracy of 0.91 and ROC-AUC of 0.97. Unlike other machine learning models published in the literature, OncoOrigin stands out as the only one integrated with a graphical user interface, which is crucial for facilitating its use by oncology specialists in everyday clinical practice, where its application and implementation will have the greatest value in the future.
Ključne riječi (engleski)
Jezikhrvatski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaInternational Journal of Molecular Sciences
Brojčani podacivol. 26, br. 6, 2568
e-ISSN1422-0067
DOIhttps://doi.org/10.3390/ijms26062568
URN:NBNurn:nbn:hr:184:065299
Datum objave publikacije2025-03-13
URL dokumentahttps://www.mdpi.com/1422-0067/26/6/2568
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2025-03-14 08:06:55