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Overdose prescription errors sometimes cause serious life-threatening adverse drug events, while underdose errors lead to diminished therapeutic effects. Therefore, it is important to detect and prevent these errors. In the present study, we used the one-class support vector machine (OCSVM), one of the most common unsupervised machine learning algorithms for anomaly detection, to identify overdose and underdose prescriptions. We extracted prescription data from electronic health records in Kyushu University Hospital between January 1, 2014 and December 31, 2019. We constructed an OCSVM model for each of the 21 candidate drugs using three features: age, weight, and dose. Clinical overdose and underdose prescriptions, which were identified and rectified by pharmacists before administration, were collected. Synthetic overdose and underdose prescriptions were created using the maximum and minimum doses, defined by drug labels or the UpToDate database. We applied these prescription data to the OCSVM model and evaluated its detection performance. We also performed comparative analysis with other unsupervised outlier detection algorithms (local outlier factor, isolation forest, and robust covariance). Twenty-seven out of 31 clinical overdose and underdose prescriptions (87.1%) were detected as abnormal by the model. The constructed OCSVM models showed high performance for detecting synthetic overdose prescriptions (precision 0.986, recall 0.964, and F-measure 0.973) and synthetic underdose prescriptions (precision 0.980, recall 0.794, and F-measure 0.839). In comparative analysis, OCSVM showed the best performance. Our models detected the majority of clinical overdose and underdose prescriptions and demonstrated high performance in synthetic data analysis. OCSVM models, constructed using features such as age, weight, and dose, are useful for detecting overdose and underdose prescriptions.

Dementia is increasing in prevalence worldwide, yet frequently remains undiagnosed, especially in low- and middle-income countries. Population-based surveys represent an underinvestigated source to identify individuals at risk of dementia. The aim is to identify participants with high likelihood of dementia in population-based surveys without the need of the clinical diagnosis of dementia in a subsample. Unsupervised machine learning classification (hierarchical clustering on principal components) was developed in the Health and Retirement Study (HRS; 2002-2003, N=18,165 individuals) and validated in the Survey of Health, Ageing and Retirement in Europe (SHARE; 2010-2012, N=58,202 individuals). Unsupervised machine learning classification identified three clusters in HRS: cluster 1 (n=12,231) without any functional or motor limitations, cluster 2 (N=4841) with walking/climbing limitations, and cluster 3 (N=1093) with both functional and walking/climbing limitations. Comparison of cluster 3 with previously published predicted probabilities of dementia in HRS showed that it identified high likelihood of dementia (probability of dementia >0.95; area under the curve [AUC]=0.91). Removing either cognitive or both cognitive and behavioral measures did not impede accurate classification (AUC=0.91 and AUC=0.90, respectively). Three clusters with similar profiles were identified in SHARE (cluster 1: n=40,223; cluster 2: n=15,644; cluster 3: n=2335). Survival rate of participants from cluster 3 reached 39.2% (n=665 deceased) in HRS and 62.2% (n=811 deceased) in SHARE after a 3.9-year follow-up. Surviving participants from cluster 3 in both cohorts worsened their functional and mobility performance over the same period. Unsupervised machine learning identifies high likelihood of dementia in population-based surveys, even without cognitive and behavioral measures and without the need of clinical diagnosis of dementia in a subsample of the population. This method could be used to tackle the global challenge of dementia.

Transcriptomic profiling is a powerful tool for dissecting the cellular and molecular complexity of ocular tissues, providing insights into retinal development, corneal disease, macular degeneration, and glaucoma. With the expansion of microarray, bulk RNA sequencing (RNA-seq), and single-cell RNA-seq technologies, artificial intelligence (AI) has emerged as a key strategy for analyzing high-dimensional gene expression data. This review synthesizes AI-enabled transcriptomic studies in ophthalmology from 2019 to 2025, highlighting how supervised and unsupervised machine learning (ML) methods have advanced biomarker discovery, cell type classification, and eye development and ocular disease modeling. Here, we discuss unsupervised techniques, such as principal component analysis (PCA), t-distributed stochastic neighbor embedding (t-SNE), uniform manifold approximation and projection (UMAP), and weighted gene co-expression network analysis (WGCNA), now the standard in single-cell workflows. Supervised approaches are also discussed, including the least absolute shrinkage and selection operator (LASSO), support vector machines (SVMs), and random forests (RFs), and their utility in identifying diagnostic and prognostic markers in age-related macular degeneration (AMD), diabetic retinopathy (DR), glaucoma, keratoconus, thyroid eye disease, and posterior capsule opacification (PCO), as well as deep learning frameworks, such as variational autoencoders and neural networks that support multi-omics integration. Despite challenges in interpretability and standardization, explainable AI and multimodal approaches offer promising avenues for advancing precision ophthalmology.

Amyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic heterogeneity. Machine learning approaches have previously been utilised for patient stratification in ALS as they can disentangle complex disease landscapes. However, lack of independent validation in different populations and tissue samples have greatly limited their use in clinical and research settings. We overcame these issues by performing hierarchical clustering on the 5000 most variably expressed autosomal genes from motor cortex expression data of people with sporadic ALS from the KCL BrainBank (N = 112). Three molecular phenotypes linked to ALS pathogenesis were identified: synaptic and neuropeptide signalling, oxidative stress and apoptosis, and neuroinflammation. Cluster validation was achieved by applying linear discriminant analysis models to cases from TargetALS US motor cortex (N = 93), as well as Italian (N = 15) and Dutch (N = 397) blood expression datasets, for which there was a high assignment probability (80–90%) for each molecular subtype. The ALS and motor cortex specificity of the expression signatures were tested by mapping KCL BrainBank controls (N = 59), and occipital cortex (N = 45) and cerebellum (N = 123) samples from TargetALS to each cluster, before constructing case-control and motor cortex-region logistic regression classifiers. We found that the signatures were not only able to distinguish people with ALS from controls (AUC 0.88 ± 0.10), but also reflect the motor cortex-based disease process, as there was perfect discrimination between motor cortex and the other brain regions. Cell types known to be involved in the biological processes of each molecular phenotype were found in higher proportions, reinforcing their biological interpretation. Phenotype analysis revealed distinct cluster-related outcomes in both motor cortex datasets, relating to disease onset and progression-related measures. Our results support the hypothesis that different mechanisms underpin ALS pathogenesis in subgroups of patients and demonstrate potential for the development of personalised treatment approaches. Our method is available for the scientific and clinical community at https://alsgeclustering.er.kcl.ac.uk .

Artificial intelligence (AI) is being increasingly integrated into scientific discovery to augment and accelerate research, helping scientists to generate hypotheses, design experiments, collect and interpret large datasets, and gain insights that might not have been possible using traditional scientific methods alone. Here we examine breakthroughs over the past decade that include self-supervised learning, which allows models to be trained on vast amounts of unlabelled data, and geometric deep learning, which leverages knowledge about the structure of scientific data to enhance model accuracy and efficiency. Generative AI methods can create designs, such as small-molecule drugs and proteins, by analysing diverse data modalities, including images and sequences. We discuss how these methods can help scientists throughout the scientific process and the central issues that remain despite such advances. Both developers and users of AI tools need a better understanding of when such approaches need improvement, and challenges posed by poor data quality and stewardship remain. These issues cut across scientific disciplines and require developing foundational algorithmic approaches that can contribute to scientific understanding or acquire it autonomously, making them critical areas of focus for AI innovation. The advances in artificial intelligence over the past decade are examined, with a discussion on how artificial intelligence systems can aid the scientific process and the central issues that remain despite advances.

A long-standing goal of artificial intelligence is an algorithm that learns, tabula rasa , superhuman proficiency in challenging domains. Recently, AlphaGo became the first program to defeat a world champion in the game of Go. The tree search in AlphaGo evaluated positions and selected moves using deep neural networks. These neural networks were trained by supervised learning from human expert moves, and by reinforcement learning from self-play. Here we introduce an algorithm based solely on reinforcement learning, without human data, guidance or domain knowledge beyond game rules. AlphaGo becomes its own teacher: a neural network is trained to predict AlphaGo’s own move selections and also the winner of AlphaGo’s games. This neural network improves the strength of the tree search, resulting in higher quality move selection and stronger self-play in the next iteration. Starting tabula rasa , our new program AlphaGo Zero achieved superhuman performance, winning 100–0 against the previously published, champion-defeating AlphaGo. Starting from zero knowledge and without human data, AlphaGo Zero was able to teach itself to play Go and to develop novel strategies that provide new insights into the oldest of games. AlphaGo Zero goes solo To beat world champions at the game of Go, the computer program AlphaGo has relied largely on supervised learning from millions of human expert moves. David Silver and colleagues have now produced a system called AlphaGo Zero, which is based purely on reinforcement learning and learns solely from self-play. Starting from random moves, it can reach superhuman level in just a couple of days of training and five million games of self-play, and can now beat all previous versions of AlphaGo. Because the machine independently discovers the same fundamental principles of the game that took humans millennia to conceptualize, the work suggests that such principles have some universal character, beyond human bias.

The exceptionally rapid development of highly flexible, reusable artificial intelligence (AI) models is likely to usher in newfound capabilities in medicine. We propose a new paradigm for medical AI, which we refer to as generalist medical AI (GMAI). GMAI models will be capable of carrying out a diverse set of tasks using very little or no task-specific labelled data. Built through self-supervision on large, diverse datasets, GMAI will flexibly interpret different combinations of medical modalities, including data from imaging, electronic health records, laboratory results, genomics, graphs or medical text. Models will in turn produce expressive outputs such as free-text explanations, spoken recommendations or image annotations that demonstrate advanced medical reasoning abilities. Here we identify a set of high-impact potential applications for GMAI and lay out specific technical capabilities and training datasets necessary to enable them. We expect that GMAI-enabled applications will challenge current strategies for regulating and validating AI devices for medicine and will shift practices associated with the collection of large medical datasets. This review discusses generalist medical artificial intelligence, identifying potential applications and setting out specific technical capabilities and training datasets necessary to enable them, as well as highlighting challenges to its implementation.

Deep neural networks currently provide the best quantitative models of the response patterns of neurons throughout the primate ventral visual stream. However, such networks have remained implausible as a model of the development of the ventral stream, in part because they are trained with supervised methods requiring many more labels than are accessible to infants during development. Here, we report that recent rapid progress in unsupervised learning has largely closed this gap. We find that neural network models learned with deep unsupervised contrastive embedding methods achieve neural prediction accuracy in multiple ventral visual cortical areas that equals or exceeds that of models derived using today’s best supervised methods and that the mapping of these neural network models’ hidden layers is neuroanatomically consistent across the ventral stream. Strikingly, we find that these methods produce brain-like representations even when trained solely with real human child developmental data collected from head-mounted cameras, despite the fact that these datasets are noisy and limited. We also find that semisupervised deep contrastive embeddings can leverage small numbers of labeled examples to produce representations with substantially improved error-pattern consistency to human behavior. Taken together, these results illustrate a use of unsupervised learning to provide a quantitative model of a multiarea cortical brain system and present a strong candidate for a biologically plausible computational theory of primate sensory learning.

As a data-driven science, genomics largely utilizes machine learning to capture dependencies in data and derive novel biological hypotheses. However, the ability to extract new insights from the exponentially increasing volume of genomics data requires more expressive machine learning models. By effectively leveraging large data sets, deep learning has transformed fields such as computer vision and natural language processing. Now, it is becoming the method of choice for many genomics modelling tasks, including predicting the impact of genetic variation on gene regulatory mechanisms such as DNA accessibility and splicing.This Review describes different deep learning techniques and how they can be applied to extract biologically relevant information from large, complex genomic data sets.

Unsupervised machine learning methods are important analytical tools that can facilitate the analysis and interpretation of high-dimensional data. Unsupervised machine learning methods identify latent patterns and hidden structures in high-dimensional data and can help simplify complex datasets. This article provides an overview of key unsupervised machine learning techniques including K-means clustering, hierarchical clustering, principal component analysis, and factor analysis. With a deeper understanding of these analytical tools, unsupervised machine learning methods can be incorporated into health sciences research to identify novel risk factors, improve prevention strategies, and facilitate delivery of personalized therapies and targeted patient care. Level of evidence: I