CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.
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ABSTRACT:
SUBMITTER: Li Q
PROVIDER: S-EPMC9075800 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Publications
CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.
Li Quan Q Ren Zilin Z Cao Kajia K Li Marilyn M MM Wang Kai K Zhou Yunyun Y
Science advances 20220506 18
Several knowledgebases are manually curated to support clinical interpretations of thousands of hotspot somatic mutations in cancer. However, discrepancies or even conflicting interpretations are observed among these databases. Furthermore, many previously undocumented mutations may have clinical or functional impacts on cancer but are not systematically interpreted by existing knowledgebases. To address these challenges, we developed CancerVar to facilitate automated and standardized interpreta ...[more]
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Project description:ImportanceElectroencephalograms (EEGs) are a fundamental evaluation in neurology but require special expertise unavailable in many regions of the world. Artificial intelligence (AI) has a potential for addressing these unmet needs. Previous AI models address only limited aspects of EEG interpretation such as distinguishing abnormal from normal or identifying epileptiform activity. A comprehensive, fully automated interpretation of routine EEG based on AI suitable for clinical practice is needed.ObjectiveTo develop and validate an AI model (Standardized Computer-based Organized Reporting of EEG-Artificial Intelligence [SCORE-AI]) with the ability to distinguish abnormal from normal EEG recordings and to classify abnormal EEG recordings into categories relevant for clinical decision-making: epileptiform-focal, epileptiform-generalized, nonepileptiform-focal, and nonepileptiform-diffuse.Design, setting, and participantsIn this multicenter diagnostic accuracy study, a convolutional neural network model, SCORE-AI, was developed and validated using EEGs recorded between 2014 and 2020. Data were analyzed from January 17, 2022, until November 14, 2022. A total of 30 493 recordings of patients referred for EEG were included into the development data set annotated by 17 experts. Patients aged more than 3 months and not critically ill were eligible. The SCORE-AI was validated using 3 independent test data sets: a multicenter data set of 100 representative EEGs evaluated by 11 experts, a single-center data set of 9785 EEGs evaluated by 14 experts, and for benchmarking with previously published AI models, a data set of 60 EEGs with external reference standard. No patients who met eligibility criteria were excluded.Main outcomes and measuresDiagnostic accuracy, sensitivity, and specificity compared with the experts and the external reference standard of patients' habitual clinical episodes obtained during video-EEG recording.ResultsThe characteristics of the EEG data sets include development data set (N = 30 493; 14 980 men; median age, 25.3 years [95% CI, 1.3-76.2 years]), multicenter test data set (N = 100; 61 men, median age, 25.8 years [95% CI, 4.1-85.5 years]), single-center test data set (N = 9785; 5168 men; median age, 35.4 years [95% CI, 0.6-87.4 years]), and test data set with external reference standard (N = 60; 27 men; median age, 36 years [95% CI, 3-75 years]). The SCORE-AI achieved high accuracy, with an area under the receiver operating characteristic curve between 0.89 and 0.96 for the different categories of EEG abnormalities, and performance similar to human experts. Benchmarking against 3 previously published AI models was limited to comparing detection of epileptiform abnormalities. The accuracy of SCORE-AI (88.3%; 95% CI, 79.2%-94.9%) was significantly higher than the 3 previously published models (P < .001) and similar to human experts.Conclusions and relevanceIn this study, SCORE-AI achieved human expert level performance in fully automated interpretation of routine EEGs. Application of SCORE-AI may improve diagnosis and patient care in underserved areas and improve efficiency and consistency in specialized epilepsy centers.
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Project description:BackgroundArtificial intelligence (AI) has revolutionized health care delivery in recent years. There is an increase in research for advanced AI techniques, such as deep learning, to build predictive models for the early detection of diseases. Such predictive models leverage mobile health (mHealth) data from wearable sensors and smartphones to discover novel ways for detecting and managing chronic diseases and mental health conditions.ObjectiveCurrently, little is known about the use of AI-powered mHealth (AIM) settings. Therefore, this scoping review aims to map current research on the emerging use of AIM for managing diseases and promoting health. Our objective is to synthesize research in AIM models that have increasingly been used for health care delivery in the last 2 years.MethodsUsing Arksey and O'Malley's 5-point framework for conducting scoping reviews, we reviewed AIM literature from the past 2 years in the fields of biomedical technology, AI, and information systems. We searched 3 databases, PubsOnline at INFORMS, e-journal archive at MIS Quarterly, and Association for Computing Machinery (ACM) Digital Library using keywords such as "mobile healthcare," "wearable medical sensors," "smartphones", and "AI." We included AIM articles and excluded technical articles focused only on AI models. We also used the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) technique for identifying articles that represent a comprehensive view of current research in the AIM domain.ResultsWe screened 108 articles focusing on developing AIM models for ensuring better health care delivery, detecting diseases early, and diagnosing chronic health conditions, and 37 articles were eligible for inclusion, with 31 of the 37 articles being published last year (76%). Of the included articles, 9 studied AI models to detect serious mental health issues, such as depression and suicidal tendencies, and chronic health conditions, such as sleep apnea and diabetes. Several articles discussed the application of AIM models for remote patient monitoring and disease management. The considered primary health concerns belonged to 3 categories: mental health, physical health, and health promotion and wellness. Moreover, 14 of the 37 articles used AIM applications to research physical health, representing 38% of the total studies. Finally, 28 out of the 37 (76%) studies used proprietary data sets rather than public data sets. We found a lack of research in addressing chronic mental health issues and a lack of publicly available data sets for AIM research.ConclusionsThe application of AIM models for disease detection and management is a growing research domain. These models provide accurate predictions for enabling preventive care on a broader scale in the health care domain. Given the ever-increasing need for remote disease management during the pandemic, recent AI techniques, such as federated learning and explainable AI, can act as a catalyst for increasing the adoption of AIM and enabling secure data sharing across the health care industry.
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Project description:ObjectiveThe objectives of this systematic review are to describe features and specific application scenarios for current cancer survivorship care services of Artificial intelligence (AI)-driven digital health technologies (DHTs) and to explore the acceptance and briefly evaluate its feasibility in the application process.MethodsSearch for literatures published from 2010 to 2022 on sites MEDLINE, IEEE-Xplor, PubMed, Embase, Cochrane Central Register of Controlled Trials and Scopus systematically. The types of literatures include original research, descriptive study, randomized controlled trial, pilot study, and feasible or acceptable study. The literatures above described current status and effectiveness of digital medical technologies based on AI and used in cancer survivorship care services. Additionally, we use QuADS quality assessment tool to evaluate the quality of literatures included in this review.Results43 studies that met the inclusion criteria were analyzed and qualitatively synthesized. The current status and results related to the application of AI-driven DHTs in cancer survivorship care were reviewed. Most of these studies were designed specifically for breast cancer survivors' care and focused on the areas of recurrence or secondary cancer prediction, clinical decision support, cancer survivability prediction, population or treatment stratified, anti-cancer treatment-induced adverse reaction prediction, and so on. Applying AI-based DHTs to cancer survivors actually has shown some positive outcomes, including increased motivation of patient-reported outcomes (PROs), reduce fatigue and pain levels, improved quality of life, and physical function. However, current research mostly explored the technology development and formation (testing) phases, with limited-scale population, and single-center trial. Therefore, it is not suitable to draw conclusions that the effectiveness of AI-based DHTs in supportive cancer care, as most of applications are still in the early stage of development and feasibility testing.ConclusionsWhile digital therapies are promising in the care of cancer patients, more high-quality studies are still needed in the future to demonstrate the effectiveness of digital therapies in cancer care. Studies should explore how to develop uniform standards for measuring patient-related outcomes, ensure the scientific validity of research methods, and emphasize patient and health practitioner involvement in the development and use of technology.
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Project description:ImportanceOphthalmology is reliant on effective interpretation of multimodal imaging to ensure diagnostic accuracy. The new ability of ChatGPT-4 (OpenAI) to interpret ophthalmic images has not yet been explored.ObjectiveTo evaluate the performance of the novel release of an artificial intelligence chatbot that is capable of processing imaging data.Design, setting, and participantsThis cross-sectional study used a publicly available dataset of ophthalmic cases from OCTCases, a medical education platform based out of the Department of Ophthalmology and Vision Sciences at the University of Toronto, with accompanying clinical multimodal imaging and multiple-choice questions. Across 137 available cases, 136 contained multiple-choice questions (99%).ExposuresThe chatbot answered questions requiring multimodal input from October 16 to October 23, 2023.Main outcomes and measuresThe primary outcome was the accuracy of the chatbot in answering multiple-choice questions pertaining to image recognition in ophthalmic cases, measured as the proportion of correct responses. χ2 Tests were conducted to compare the proportion of correct responses across different ophthalmic subspecialties.ResultsA total of 429 multiple-choice questions from 136 ophthalmic cases and 448 images were included in the analysis. The chatbot answered 299 of multiple-choice questions correctly across all cases (70%). The chatbot's performance was better on retina questions than neuro-ophthalmology questions (77% vs 58%; difference = 18%; 95% CI, 7.5%-29.4%; χ21 = 11.4; P < .001). The chatbot achieved a better performance on nonimage-based questions compared with image-based questions (82% vs 65%; difference = 17%; 95% CI, 7.8%-25.1%; χ21 = 12.2; P < .001).The chatbot performed best on questions in the retina category (77% correct) and poorest in the neuro-ophthalmology category (58% correct). The chatbot demonstrated intermediate performance on questions from the ocular oncology (72% correct), pediatric ophthalmology (68% correct), uveitis (67% correct), and glaucoma (61% correct) categories.Conclusions and relevanceIn this study, the recent version of the chatbot accurately responded to approximately two-thirds of multiple-choice questions pertaining to ophthalmic cases based on imaging interpretation. The multimodal chatbot performed better on questions that did not rely on the interpretation of imaging modalities. As the use of multimodal chatbots becomes increasingly widespread, it is imperative to stress their appropriate integration within medical contexts.
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2024-02-15 | GSE228560 | GEO
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