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PubMed2025

Discovery and performance of DNA methylation panels for cancer detection and classification in blood.

Examining DNA in a liquid biopsy for non-invasive cancer detection relies on identifying dilute signal in a high background. This study aims to identify DNA methylation biomarkers for multi-cancer detection. Utilizing large tissue datasets, we apply novel search algorithms to discover confined biomarker panels capable of distinguishing tumor from normal and determining the tissue of origin. We explore the applicability to blood-based testing using targeted methylation sequencing followed by machine learning classification. We present an 8-marker panel, which successfully predicts tumors across 14 types with a 91% average sensitivity, maintaining a low false positive rate (< 0.04%). Additionally, a panel of 39 CpG sites exhibits accuracies ranging from 69% to 98% for identifying tissue of origin. When tested on 114 patient plasma samples (colon, liver, pancreatic, prostate, and stomach cancer), the 8-marker panel obtains an AUC of 0.78 with a 78% sensitivity among 32 early-stage patients (stage I-II), and 60% overall. Using the 39-marker panel in a multi-class classification model selecting only the best match, 54% of tumor samples were on average correctly assigned to the tissue of origin, and up to 80% when allowing more inclusive criteria. Using a limited set of biomarkers, our work contributes to advancing non-invasive cancer diagnostics.

DNA methylation↗

PubMed2003

The automatic discovery of structural principles describing protein fold space.

The study of protein structure has been driven largely by the careful inspection of experimental data by human experts. However, the rapid determination of protein structures from structural-genomics projects will make it increasingly difficult to analyse (and determine the principles responsible for) the distribution of proteins in fold space by inspection alone. Here, we demonstrate a machine-learning strategy that automatically determines the structural principles describing 45 folds. The rules learnt were shown to be both statistically significant and meaningful to protein experts. With the increasing emphasis on high-throughput experimental initiatives, machine-learning and other automated methods of analysis will become increasingly important for many biological problems.

Algorithms↗

PubMed2001

Machine learning for science: state of the art and future prospects.

Recent advances in machine learning methods, along with successful applications across a wide variety of fields such as planetary science and bioinformatics, promise powerful new tools for practicing scientists. This viewpoint highlights some useful characteristics of modern machine learning methods and their relevance to scientific applications. We conclude with some speculations on near-term progress and promising directions.

Algorithms↗

PubMed2003

Evolutionary computing for knowledge discovery in medical diagnosis.

One of the major challenges in medical domain is the extraction of comprehensible knowledge from medical diagnosis data. In this paper, a two-phase hybrid evolutionary classification technique is proposed to extract classification rules that can be used in clinical practice for better understanding and prevention of unwanted medical events. In the first phase, a hybrid evolutionary algorithm (EA) is utilized to confine the search space by evolving a pool of good candidate rules, e.g. genetic programming (GP) is applied to evolve nominal attributes for free structured rules and genetic algorithm (GA) is used to optimize the numeric attributes for concise classification rules without the need of discretization. These candidate rules are then used in the second phase to optimize the order and number of rules in the evolution for forming accurate and comprehensible rule sets. The proposed evolutionary classifier (EvoC) is validated upon hepatitis and breast cancer datasets obtained from the UCI machine-learning repository. Simulation results show that the evolutionary classifier produces comprehensible rules and good classification accuracy for the medical datasets. Results obtained from t-tests further justify its robustness and invariance to random partition of datasets.

Adolescent↗

PubMed1997

Information retrieval: an overview of system characteristics.

The paper gives an overview of characteristics of information retrieval (IR) systems. The characteristics are identified from the descriptions of 23 IR systems. Four IR models are discussed: the Boolean model, the vector model, the probabilistic model and the connectionistic model. Twelve other characteristics of IR models are identified: search intermediary, domain knowledge, relevance feedback, natural language interface, graphical query language, conceptual queries, full-text IR, field searching, fuzzy queries, hypertext integration, machine learning, and ranked output. Finally, the relevance of IR systems for the World Wide Web is established.

Algorithms↗

PubMed2026

Discovery and validation of a multi-protein panel for predicting non-fatal major adverse cardiovascular events in diabetic kidney disease.

OBJECTIVE: To identify plasma protein biomarkers associated with incident non-fatal major adverse cardiovascular events (MACE) in diabetic kidney disease (DKD) patients. RESEARCH DESIGN AND METHODS: We analyzed 317 DKD patients from the UK Biobank. Plasma proteomics and clinical data (demographics, metabolism, renal function) were integrated. In an exploratory discovery phase, three sequential Cox regression models (crude, socio-demographic-adjusted, socio-demographic-metabolic adjusted) screened non-fatal MACE-associated proteins. To prevent information leakage, the cohort was then randomly split into training (70%) and testing (30%) sets; machine-learning feature selection, hyperparameter optimization, and final model development were performed exclusively within the training set. The associated proteins were input into the four-step machine-learning pipeline (LASSO-Cox, random survival forest, Boruta, XGBoost-Cox). Predictive performance was validated using Kaplan-Meier survival analyses, longitudinal trajectory modeling, and ROC benchmarking. An interactive web application was deployed for clinical implementation. RESULTS: Of 1,463 plasma proteins, 561 were associated with non-fatal MACE across Cox models, with 14 overlapping proteins. Nine core proteins (ANG, IL1R1, CXCL14, ESAM, PTGDS, HAVCR1, FGFR2, IGSF8, CCL3) were validated: ANG showed the strongest non-fatal MACE association (HR = 3.88, 95%CI 2.33-6.48, p<0.001), and all high-expression groups had elevated non-fatal MACE risk. GO/KEGG enrichment highlighted inflammatory-immune pathways like positive regulation of MAPK cascade, Cytokine-cytokine receptor interaction and PI3K-Akt signaling pathway as key mechanisms. The model integrating proteins, demographic factors, and clinical variables achieved the highest predictive performance across non-fatal MACE (AUC = 0.768), myocardial infarction (MI) (0.808), and stroke (0.816) outcomes, with superior stability in cross-validation. CoxBoost + Elastic Net framework was selected as the optimal framework via benchmarking of 101 algorithms. The model demonstrated favorable calibration in high-risk patients and yielded positive net clinical benefit across decision thresholds of 5% to 45%. The web tool (https://jiangli2941.github.io/MACE-prediction-v2/) enables input of 28 variables, outputs non-fatal MACE risk status, risk probability, and highlights abnormal indicators. CONCLUSION: Plasma proteomics combined with machine learning identifies robust non-fatal MACE predictors in DKD.

Humans↗

PubMed2002

Machine learning of functional class from phenotype data.

MOTIVATION: Mutant phenotype growth experiments are an important novel source of functional genomics data which have received little attention in bioinformatics. We applied supervised machine learning to the problem of using phenotype data to predict the functional class of Open Reading Frames (ORFs) in Saccaromyces cerevisiae. Three sources of data were used: TRansposon-Insertion Phenotypes, Localization and Expression in Saccharomyces (TRIPLES), European Functional Analysis Network (EUROFAN) and Munich Information Center for Protein Sequences (MIPS). The analysis of the data presented a number of challenges to machine learning: multi-class labels, a large number of sparsely populated classes, the need to learn a set of accurate rules (not a complete classification), and a very large amount of missing values. We modified the algorithm C4.5 to deal with these problems. RESULTS: Rules were learnt which are accurate and biologically meaningful. The rules predict function of 83 ORFs of unknown function at an estimated accuracy of > or = 80%.

Artificial Intelligence↗

PubMed2024

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

BACKGROUND: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG-AMP) have issued a set of guidelines for variant classification. However, given the vast number of variants associated with any disorder, it is impossible to manually apply these guidelines to all known variants. Machine learning methodologies offer a rapid way to classify large numbers of variants, as well as variants of uncertain significance as either pathogenic or benign. Here we classify ATP7B genetic variants by employing ML and AI algorithms trained on our well-annotated WilsonGen dataset. METHODS: We have trained and validated two algorithms: TabNet and XGBoost on a high-confidence dataset of manually annotated, ACMG & AMP classified variants of the ATP7B gene associated with Wilson's Disease. RESULTS: Using an independent validation dataset of ACMG & AMP classified variants, as well as a patient set of functionally validated variants, we showed how both algorithms perform and can be used to classify large numbers of variants in clinical as well as research settings. CONCLUSION: We have created a ready to deploy tool, that can classify variants linked with Wilson's disease as pathogenic or benign, which can be utilized by both clinicians and researchers to better understand the disease through the nature of genetic variants associated with it.

Hepatolenticular Degeneration↗

PubMed2025

Privacy-Enhancing Sequential Learning under Heterogeneous Selection Bias in Multi-Site EHR Data.

OBJECTIVE: To develop privacy-enhancing statistical methods for estimation of binary disease risk model association parameters across multiple electronic health record (EHR) sites with heterogeneous selection mechanisms, without sharing raw individual-level data. We illustrate their utility through a cross-biobank analysis of smoking and 97 cancer subtypes using data from the NIH All of Us (AOU) and the Michigan Genomics Initiative (MGI). MATERIALS AND METHODS: Large-scale biobanks often follow heterogeneous recruitment strategies and store data in separate cloud-based platforms, making centralized algorithms infeasible. To address this, we propose two decentralized sequential estimators namely, Sequential Pseudo-likelihood (SPL) and Sequential Augmented Inverse Probability Weighting (SAIPW) that leverage external population-level information to adjust for selection bias, with valid variance estimation. SAIPW additionally protects against misspecification of the selection model using flexible machine learning based auxiliary outcome models. We compare SPL and SAIPW with the existing Sequential Unweighted (SUW) estimator and with centralized and meta learning extensions of IPW and AIPW in simulations under both correctly specified and misspecified selection mechanisms. We apply the methods to harmonized data from MGI ( n = 50,935) and AOU ( n = 241,563) to estimate smoking-cancer associations. RESULTS: In simulations, SUW exhibited substantial bias and poor coverage. SPL and SAIPW yielded unbiased estimates with valid coverage probabilities under correct model specification, with SAIPW remaining robust under selection model misspecification. Both approaches showed no notable efficiency loss relative to centralized methods. Meta-learning methods were efficient for large sites but failed in settings with small cohort sizes and rare outcome prevalence. In real-data analysis, strong associations were consistently identified between smoking and cancers of the lung, bladder, and larynx, aligning with established epidemiological evidence. CONCLUSION: Our framework enables valid, privacy-enhancing inference across EHR cohorts with heterogeneous selection, supporting scalable, decentralized research using real-world data.

Journal Article↗

PubMed2026

The potential of clustering methods for pre-test triage in sleep medicine: A systematic review.

Sleep disorders exhibit substantial heterogeneity, and traditional classifications may not fully capture clinically relevant subtypes. Clustering techniques can identify patient subgroups that improve phenotypic characterization and may support personalized management. This systematic review evaluated the application of clustering in sleep medicine, with particular focus on its potential use as a pre-test triage tool prior to formal sleep testing. PubMed/MEDLINE, Embase, Web of Science, and Scopus were searched to February 2025. Eligible studies applied clustering to classify sleep disorders in adults. Two reviewers independently conducted screening, data extraction, and risk-of-bias assessment using QUADAS-2. The protocol was registered on PROSPERO. Fifty-one studies (1983-2025) were included, predominantly focused on obstructive sleep apnea (OSA) (n = 38, 74%). Hierarchical clustering (n = 20) and K-means clustering (n = 14) were the most frequently used techniques. Internal validation was reported in only 18% of studies, and external validation was reported in only 1 study. Seven studies relied exclusively on baseline clinical, demographic, or questionnaire data, representing pre-test scenarios, whereas most incorporated polysomnography-derived variables, limiting their applicability to early clinical stratification. Hierarchical clustering was the most commonly applied method; however, the overall lack of validation limits confidence in the robustness and clinical applicability of identified phenotypes. The potential role of clustering as a pre-test triage strategy remains largely unexplored, as most studies focused on post-diagnostic phenotyping and were affected by incorporation bias. Future research should prioritize pre-test clinical variables, rigorously validate internally and externally, and adopt standardized methodological and reporting practices to facilitate clinical translation.

Humans↗

PubMed2001

Best harmony, unified RPCL and automated model selection for unsupervised and supervised learning on Gaussian mixtures, three-layer nets and ME-RBF-SVM models.

After introducing the fundamentals of BYY system and harmony learning, which has been developed in past several years as a unified statistical framework for parameter learning, regularization and model selection, we systematically discuss this BYY harmony learning on systems with discrete inner-representations. First, we shown that one special case leads to unsupervised learning on Gaussian mixture. We show how harmony learning not only leads us to the EM algorithm for maximum likelihood (ML) learning and the corresponding extended KMEAN algorithms for Mahalanobis clustering with criteria for selecting the number of Gaussians or clusters, but also provides us two new regularization techniques and a unified scheme that includes the previous rival penalized competitive learning (RPCL) as well as its various variants and extensions that performs model selection automatically during parameter learning. Moreover, as a by-product, we also get a new approach for determining a set of 'supporting vectors' for Parzen window density estimation. Second, we shown that other special cases lead to three typical supervised learning models with several new results. On three layer net, we get (i) a new regularized ML learning, (ii) a new criterion for selecting the number of hidden units, and (iii) a family of EM-like algorithms that combines harmony learning with new techniques of regularization. On the original and alternative models of mixture-of-expert (ME) as well as radial basis function (RBF) nets, we get not only a new type of criteria for selecting the number of experts or basis functions but also a new type of the EM-like algorithms that combines regularization techniques and RPCL learning for parameter learning with either least complexity nature on the original ME model or automated model selection on the alternative ME model and RBF nets. Moreover, all the results for the alternative ME model are also applied to other two popular nonparametric statistical approaches, namely kernel regression and supporting vector machine. Particularly, not only we get an easily implemented approach for determining the smoothing parameter in kernel regression, but also we get an alternative approach for deciding the set of supporting vectors in supporting vector machine.

Algorithms↗

PubMed2025

Tomtom-lite: accelerating Tomtom enables large-scale and real-time motif similarity scoring.

SUMMARY: Pairwise sequence similarity is a core operation in genomic analysis, yet most attention has been given to sequences made up of discrete characters. With the growing prevalence of machine learning, calculating similarities for sequences of continuous representations, e.g. frequency-based position-weight matrices (PWMs) and attribution-based contribution-weight matrices, is taking on newfound importance. Tomtom has previously been proposed as an algorithm for identifying pairs of PWMs whose similarity is statistically significant, but the implementation remains inefficient for both real-time and large-scale analysis. Accordingly, we have re-implemented Tomtom as a numba-accelerated Python function that is natively multi-threaded, avoids cache misses, more efficiently caches intermediate values, and uses approximations at compute bottlenecks. Here, we provide a detailed description of the original Tomtom method and present results demonstrating that our re-implementation can achieve over a 1000-fold speedup compared with the original tool on reasonable tasks. AVAILABILITY AND IMPLEMENTATION: Our implementation of Tomtom is freely available as a Python package at https://github.com/jmschrei/memesuite-lite, which can be downloaded via pip install memelite or at https://zenodo.org/records/17008952.

Software↗

PubMed2002

A support vector machine approach for detection of microcalcifications.

In this paper, we investigate an approach based on support vector machines (SVMs) for detection of microcalcification (MC) clusters in digital mammograms, and propose a successive enhancement learning scheme for improved performance. SVM is a machine-learning method, based on the principle of structural risk minimization, which performs well when applied to data outside the training set. We formulate MC detection as a supervised-learning problem and apply SVM to develop the detection algorithm. We use the SVM to detect at each location in the image whether an MC is present or not. We tested the proposed method using a database of 76 clinical mammograms containing 1120 MCs. We use free-response receiver operating characteristic curves to evaluate detection performance, and compare the proposed algorithm with several existing methods. In our experiments, the proposed SVM framework outperformed all the other methods tested. In particular, a sensitivity as high as 94% was achieved by the SVM method at an error rate of one false-positive cluster per image. The ability of SVM to out perform several well-known methods developed for the widely studied problem of MC detection suggests that SVM is a promising technique for object detection in a medical imaging application.

Algorithms↗

PubMed1998

A Machine Learning Approach to Reducing the Work of Experts in Article Selection from Database: A Case Study for Regulatory Relations of S. cerevisiae Genes in MEDLINE.

We consider the problem of selecting the articles of experts' interest from a literature database with the assistance of a machine learning system. For this purpose, we propose the rough reading strategy which combines the experts' knowledge with the machine learning system. For the articles converted through the rough reading strategy, we employ the learning system BONSAI and apply it for discovering rules which may reduce the work of experts in selecting the articles. Furthermore, we devise an algorithm which iterates the above procedure until almost all records of experts' interest are selected. Experimental results by using the articles from Cell show that almost all records of experts' interest are selected while reducing the works of experts drastically.

Journal Article↗

PubMed1993

Equilibrium point control of a monkey arm simulator by a fast learning tree structured artificial neural network.

A planar 17 muscle model of the monkey's arm based on realistic biomechanical measurements was simulated on a Symbolics Lisp Machine. The simulator implements the equilibrium point hypothesis for the control of arm movements. Given initial and final desired positions, it generates a minimum-jerk desired trajectory of the hand and uses the backdriving algorithm to determine an appropriate sequence of motor commands to the muscles (Flash 1987; Mussa-Ivaldi et al. 1991; Dornay 1991b). These motor commands specify a temporal sequence of stable (attractive) equilibrium positions which lead to the desired hand movement. A strong disadvantage of the simulator is that it has no memory of previous computations. Determining the desired trajectory using the minimum-jerk model is instantaneous, but the laborious backdriving algorithm is slow, and can take up to one hour for some trajectories. The complexity of the required computations makes it a poor model for biological motor control. We propose a computationally simpler and more biologically plausible method for control which achieves the benefits of the backdriving algorithm. A fast learning, tree-structured network (Sanger 1991c) was trained to remember the knowledge obtained by the backdriving algorithm. The neural network learned the nonlinear mapping from a 2-dimensional cartesian planar hand position (x,y) to a 17-dimensional motor command space (u1, . . ., u17). Learning 20 training trajectories, each composed of 26 sample points [[x,y], [u1, . . ., u17] took only 20 min on a Sun-4 Sparc workstation. After the learning stage, new, untrained test trajectories as well as the original trajectories of the hand were given to the neural network as input. The network calculated the required motor commands for these movements. The resulting movements were close to the desired ones for both the training and test cases.

Algorithms↗

PubMed1998

Computer simulation of FES standing up in paraplegia: a self-adaptive fuzzy controller with reinforcement learning.

Using computer simulation, the theoretical feasibility of functional electrical stimulation (FES) assisted standing up is demonstrated using a closed-loop self-adaptive fuzzy logic controller based on reinforcement machine learning (FLC-RL). The control goal was to minimize upper limb forces and the terminal velocity of the knee joint. The reinforcement learning (RL) technique was extended to multicontroller problems in continuous state and action spaces. The validated algorithms were used to synthesize FES controllers for the knee and hip joints in simulated paraplegic standing up. The FLC-RL controller was able to achieve the maneuver with only 22% of the upper limb force required to stand-up without FES and to simultaneously reduce the terminal velocity of the knee joint close to zero. The FLC-RL controller demonstrated, as expected, the closed loop fuzzy logic control and on-line self-adaptation capability of the RL was able to accommodate for simulated disturbances due to voluntary arm forces, FES induced muscle fatigue and anthropometric differences between individuals. A method of incorporating a priori heuristic rule based knowledge is described that could reduce the number of the learning trials required to establish a usable control strategy. We also discuss how such heuristics may also be incorporated into the initial FLC-RL controller to ensure safe operation from the onset.

Arm↗

PubMed2026

AI-Driven Precision Medicine in Alzheimer's Disease: Drug Repurposing, Digital Therapeutics and Clinical Decision Support.

Alzheimer's Disease (AD) is a neurodegenerative disease that causes significant clinical, social, and economic burden worldwide. Despite improvements in understanding its multifaceted pathogenesis, current treatments are mostly symptomatic and ineffective across varied patient populations. To overcome these constraints, AI-driven precision medicine allows tailored risk assessment, treatment selection, and disease monitoring. This review covers AI's role in AD precision medicine, focusing on drug repurposing, digital therapies and clinical decision support systems. Machine and deep learning models are used to predict medication response, integrate heterogeneous data sources such as genomics, transcriptomics, neuroimaging and electronic health records, and uncover pharmacogenomic treatment success factors. The paper covers AIenabled precision pharmacology, including tailored dosing algorithms, adaptive therapeutic monitoring, and adverse drug reaction prediction. Bioinformatics-based target identification, network pharmacology, graphbased AI models, virtual screening, and real-world and clinical data validation are emphasized in AI-driven medication repurposing. AI-powered digital treatments like personalized cognitive training platforms, wearable- derived digital biomarkers, virtual and mixed reality interventions, adherence monitoring, and digital twins for therapy optimization have been discussed. AI-based clinical decision support systems are also thoroughly assessed for clinical value, accuracy, and explainability in disease subtyping, trajectory prediction, and risk stratification in preclinical and prodromal AD. Despite these promises, data heterogeneity, algorithmic bias, legal barriers, and privacy concerns exist. Federated learning enables safe multi-center collaboration and hybrid AI-human approaches, and it represents the future. AI's ability to alter AD care opens the door to precision medicine paradigms that use repurposed medications, digital tools and intelligent decision-making to improve patient outcomes.

Alzheimer’s disease↗

PubMed2001

Automatic MeSH term assignment and quality assessment.

For computational purposes documents or other objects are most often represented by a collection of individual attributes that may be strings or numbers. Such attributes are often called features and success in solving a given problem can depend critically on the nature of the features selected to represent documents. Feature selection has received considerable attention in the machine learning literature. In the area of document retrieval we refer to feature selection as indexing. Indexing has not traditionally been evaluated by the same methods used in machine learning feature selection. Here we show how indexing quality may be evaluated in a machine learning setting and apply this methodology to results of the Indexing Initiative at the National Library of Medicine.

Abstracting and Indexing↗