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Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers.

ABSTRACT: At the root of the so-called precision medicine or precision oncology, which is our focus here, is the hypothesis that cancer treatment would be considerably better if therapies were guided by a tumor's genomic alterations. This hypothesis has sparked major initiatives focusing on whole-genome and/or exome sequencing, creation of large databases, and developing tools for their statistical analyses-all aspiring to identify actionable alterations, and thus molecular targets, in a patient. At the center of the massive amount of collected sequence data is their interpretations that largely rest on statistical analysis and phenotypic observations. Statistics is vital, because it guides identification of cancer-driving alterations. However, statistics of mutations do not identify a change in protein conformation; therefore, it may not define sufficiently accurate actionable mutations, neglecting those that are rare. Among the many thematic overviews of precision oncology, this review innovates by further comprehensively including precision pharmacology, and within this framework, articulating its protein structural landscape and consequences to cellular signaling pathways. It provides the underlying physicochemical basis, thereby also opening the door to a broader community.

SUBMITTER: Nussinov R

PROVIDER: S-EPMC6438456 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers.

Nussinov Ruth R Jang Hyunbum H Tsai Chung-Jung CJ Cheng Feixiong F

PLoS computational biology 20190328 3

At the root of the so-called precision medicine or precision oncology, which is our focus here, is the hypothesis that cancer treatment would be considerably better if therapies were guided by a tumor's genomic alterations. This hypothesis has sparked major initiatives focusing on whole-genome and/or exome sequencing, creation of large databases, and developing tools for their statistical analyses-all aspiring to identify actionable alterations, and thus molecular targets, in a patient. At the c ...[more]

PMID: 30921324

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Project description:Precision medicine has the potential to revolutionize the way cardiovascular diseases are diagnosed, predicted, and treated by tailoring treatment strategies to the individual characteristics of each patient. Artificial intelligence (AI) has recently emerged as a promising tool for improving the accuracy and efficiency of precision cardiovascular medicine. In this scoping review, we aimed to identify and summarize the current state of the literature on the use of AI in precision cardiovascular medicine. A comprehensive search of electronic databases, including Scopes, Google Scholar, and PubMed, was conducted to identify relevant studies. After applying inclusion and exclusion criteria, a total of 28 studies were included in the review. We found that AI is being increasingly applied in various areas of cardiovascular medicine, including the diagnosis, prognosis of cardiovascular diseases, risk prediction and stratification, and treatment planning. As a result, most of these studies focused on prediction (50%), followed by diagnosis (21%), phenotyping (14%), and risk stratification (14%). A variety of machine learning models were utilized in these studies, with logistic regression being the most used (36%), followed by random forest (32%), support vector machine (25%), and deep learning models such as neural networks (18%). Other models, such as hierarchical clustering (11%), Cox regression (11%), and natural language processing (4%), were also utilized. The data sources used in these studies included electronic health records (79%), imaging data (43%), and omics data (4%). We found that AI is being increasingly applied in various areas of cardiovascular medicine, including the diagnosis, prognosis of cardiovascular diseases, risk prediction and stratification, and treatment planning. The results of the review showed that AI has the potential to improve the performance of cardiovascular disease diagnosis and prognosis, as well as to identify individuals at high risk of developing cardiovascular diseases. However, further research is needed to fully evaluate the clinical utility and effectiveness of AI-based approaches in precision cardiovascular medicine. Overall, our review provided a comprehensive overview of the current state of knowledge in the field of AI-based methods for precision cardiovascular medicine and offered new insights for researchers interested in this research area.

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Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers.

Publications

Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers.

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