Academic Journal

DrOGA: An Artificial Intelligence Solution for Driver-Status Prediction of Genomics Mutations in Precision Cancer Medicine

التفاصيل البيبلوغرافية
العنوان: DrOGA: An Artificial Intelligence Solution for Driver-Status Prediction of Genomics Mutations in Precision Cancer Medicine
المؤلفون: Matteo Bastico, Anaida Fernandez-Garcia, Alberto Belmonte-Hernandez, Silvia Uribe Mayoral
المصدر: IEEE Access, Vol 11, Pp 37378-37391 (2023)
بيانات النشر: IEEE, 2023.
سنة النشر: 2023
المجموعة: LCC:Electrical engineering. Electronics. Nuclear engineering
مصطلحات موضوعية: Genomics, mutation, artificial intelligence, machine learning, deep learning, explainable AI, Electrical engineering. Electronics. Nuclear engineering, TK1-9971
الوصف: Precision cancer medicine suggests that better cancer treatments would be possible guiding therapies by tumor’s genomics alterations. This hypothesis boosted exome sequencing studies, collection of cancer variants databases and developing of statistical and Machine Learning-driven methods for alterations’ analysis. In order to extract relevant information from huge exome sequencing data, accurate methods to distinguish driver and neutral or passengers mutations are vital. Nevertheless, traditional variant classification methods have often low precision in favour of higher recall. Here, we propose several traditional Machine Learning and new Deep Learning techniques to finely classify driver somatic non-synonymous mutations based on a 70-features annotation, derived from medical and statistical tools. We collected and annotated a complete database containing driver and neutral alterations from various public data sources. Our framework, called Driver-Oriented Genomics Analysis (DrOGA), presents the best performances compared to individual and other ensemble methods on our data. Explainable Artificial Intelligence is used to provide visual and clinical explanation of the results, with a particular focus on the most relevant annotations. This analysis and the proposed tool, along with the collected database and the feature engineering pipeline suggested, can help the study of genomics alterations in human cancers allowing precision oncology targeted therapies based on personal data from next-generation sequencing.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2169-3536
Relation: https://ieeexplore.ieee.org/document/10101788/; https://doaj.org/toc/2169-3536
DOI: 10.1109/ACCESS.2023.3266983
URL الوصول: https://doaj.org/article/90f6f6ff18294c94a7ea585d4c85eb3b
رقم الانضمام: edsdoj.90f6f6ff18294c94a7ea585d4c85eb3b
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:21693536
DOI:10.1109/ACCESS.2023.3266983