搜索结果：Clinical epigenetics

The increasing availability of unstructured clinical narratives in electronic health records (EHRs) has created new opportunities for automated disease characterization, cohort identification, and clinical decision support. However, modeling long, domain-specific clinical text remains challenging due to limited labeled data, severe class imbalance, and the high computational cost of adapting large pretrained language models. This study presents a GPT-based architecture for clinical text classification that adapts a pretrained decoder-only Transformer using a selective fine-tuning strategy. Rather than updating all model parameters, the majority of the GPT-2 backbone is frozen, and training is restricted to the final Transformer block, the final layer normalization, and a lightweight classification head. This approach substantially reduces the number of trainable parameters while preserving the representational capacity required to model complex clinical language. The proposed method is evaluated on radiology reports from the MIMIC-IV-Note dataset using uncertainty-aware CheXpert-style labels derived directly from report text. Experiments cover multiple problem formulations, includi

Introduction: Semantic search, which retrieves documents based on conceptual similarity rather than keyword matching, offers substantial advantages for retrieval of clinical information. However, deploying semantic search across entire health systems, comprising hundreds of millions of clinical notes, presents formidable engineering, cost, and governance challenges that have prevented adoption. Methods: We deployed a semantic search system at a large children's hospital indexing 166 million clinical notes (484 million vectors) from 1.68 million patients. The system uses instruction-tuned qwen3-embedding-0.6B embeddings, stores vectors in a managed database with storage-optimized indexing, maintains full-text metadata in a low-latency key-value store, and operates within a HIPAA-compliant governance framework. We evaluated the system through three experiments: optimization of embedding model and chunking strategy using a physician-authored benchmark dataset, characterization of full-scale performance (cost, latency, retrieval quality), and clinical utility assessment via comparison of chart abstraction efficiency across three tasks. Results: The system delivers sub-second query late

We introduce SoftTiger, a clinical large language model (CLaM) designed as a foundation model for healthcare workflows. The narrative and unstructured nature of clinical notes is a major obstacle for healthcare intelligentization. We address a critical problem of structuring clinical notes into clinical data, according to international interoperability standards. We collect and annotate data for three subtasks, namely, international patient summary, clinical impression and medical encounter. We then supervised fine-tuned a state-of-the-art LLM using public and credentialed clinical data. The training is orchestrated in a way that the target model can first support basic clinical tasks such as abbreviation expansion and temporal information extraction, and then learn to perform more complex downstream clinical tasks. Moreover, we address several modeling challenges in the healthcare context, e.g., extra long context window. Our blind pairwise evaluation shows that SoftTiger outperforms other popular open-source models and GPT-3.5, comparable to Gemini-pro, with a mild gap from GPT-4. We believe that LLMs may become a step-stone towards healthcare digitalization and democratization.

Clinical AI development has traditionally followed a collaborative paradigm that depends on close interaction between clinicians and specialized AI teams. This paradigm imposes a practical challenge: clinicians must repeatedly communicate and refine their requirements with AI developers before those requirements can be translated into executable model development. This iterative process is time-consuming, and even after repeated discussion, misalignment may still exist because the two sides do not fully share each other's expertise. However, autonomous coding agents may change this paradigm, raising the possibility that clinicians could develop clinical AI models independently through natural-language interaction alone. In this study, we present such an autonomous prototype for clinician-driven clinical AI development. We evaluated the system on five clinical tasks spanning dermoscopic lesion classification, melanoma-versus-nevus triage, wrist-fracture detection (including a weakly supervised variant with only 5% bounding-box annotations), and debiased pneumothorax classification on chest radiographs. Across these settings, the system consistently developed models from clinician re

Empiric antibiotic prescribing in high-risk clinical contexts often requires decision making under conditions of incomplete information, where inappropriate coverage or unjustified escalation may compromise safety and antimicrobial stewardship. While clinical decision-support systems have been proposed to assist in this process, many approaches lack explicit governance and evaluation mechanisms defining scope, abstention conditions, recommendation permissibility, and expected system behavior. This work specifies a governance and evaluation framework for deterministic clinical decision-support systems operating under explicitly constrained scope. Deterministic behavior is adopted to ensure that identical inputs yield identical outputs, supporting transparency, auditability, and conservative decision support in high-risk prescribing contexts. The framework treats governance as a first-class design component, separating clinical decision logic from rule-based mechanisms that determine whether a recommendation may be issued. Explicit abstention, deterministic stewardship constraints, and exclusion rules are formalized as core constructs. The framework defines an evaluation methodology

The paper presents an approach for the recognition of toxic habits named entities in Spanish clinical texts. The approach was developed for the ToxHabits Shared Task. Our team participated in subtask 1, which aims to detect substance use and abuse mentions in clinical case reports and classify them in four categories (Tobacco, Alcohol, Cannabis, and Drug). We explored various methods of utilizing LLMs for the task, including zero-shot, few-shot, and prompt optimization, and found that GPT-4.1's few-shot prompting performed the best in our experiments. Our method achieved an F1 score of 0.65 on the test set, demonstrating a promising result for recognizing named entities in languages other than English.

Digital Twins hold great potential to personalize clinical patient care, provided the concept is translated to meet specific requirements emerging from established clinical workflows. We present a general and unspecialized Digital Twin design combining knowledge graphs and ensemble learning to reflect the entire patient's clinical journey and assist clinicians in their decision-making. Such a design is predictive, modular, evolving, informed, interpretable and explainable, thus opening broad clinical applications.

We evaluate the impact of large language model-based clinical decision support in live care. In partnership with Penda Health, a network of primary care clinics in Nairobi, Kenya, we studied AI Consult, a tool that serves as a safety net for clinicians by identifying potential documentation and clinical decision-making errors. AI Consult integrates into clinician workflows, activating only when needed and preserving clinician autonomy. We conducted a quality improvement study, comparing outcomes for 39,849 patient visits performed by clinicians with or without access to AI Consult across 15 clinics. Visits were rated by independent physicians to identify clinical errors. Clinicians with access to AI Consult made relatively fewer errors: 16% fewer diagnostic errors and 13% fewer treatment errors. In absolute terms, the introduction of AI Consult would avert diagnostic errors in 22,000 visits and treatment errors in 29,000 visits annually at Penda alone. In a survey of clinicians with AI Consult, all clinicians said that AI Consult improved the quality of care they delivered, with 75% saying the effect was "substantial". These results required a clinical workflow-aligned AI Consult i

We introduce Clinical ModernBERT, a transformer based encoder pretrained on large scale biomedical literature, clinical notes, and medical ontologies, incorporating PubMed abstracts, MIMIC IV clinical data, and medical codes with their textual descriptions. Building on ModernBERT the current state of the art natural language text encoder featuring architectural upgrades such as rotary positional embeddings (RoPE), Flash Attention, and extended context length up to 8,192 tokens our model adapts these innovations specifically for biomedical and clinical domains. Clinical ModernBERT excels at producing semantically rich representations tailored for long context tasks. We validate this both by analyzing its pretrained weights and through empirical evaluation on a comprehensive suite of clinical NLP benchmarks.

Genetic algorithms are a well-known example of bio-inspired heuristic methods. They mimic natural selection by modeling several operators such as mutation, crossover, and selection. Recent discoveries about Epigenetics regulation processes that occur "on top of" or "in addition to" the genetic basis for inheritance involve changes that affect and improve gene expression. They raise the question of improving genetic algorithms (GAs) by modeling epigenetics operators. This paper proposes a new epigenetics algorithm that mimics the epigenetics phenomenon known as DNA methylation. The novelty of our epigenetics algorithms lies primarily in taking advantage of attention mechanisms and deep learning, which fits well with the genes enhancing/silencing concept. The paper develops theoretical arguments and presents empirical studies to exhibit the capability of the proposed epigenetics algorithms to solve more complex problems efficiently than has been possible with simple GAs; for example, facing two Non-convex (multi-peaks) optimization problems as presented in this paper, the proposed epigenetics algorithm provides good performances and shows an excellent ability to overcome the lack of

Bioinformatics platforms have significantly changed clinical diagnostics by facilitating the analysis of genomic data, thereby advancing personalized medicine and improving patient care. This study examines the integration, usage patterns, challenges, and impact of the Galaxy platform within clinical diagnostics laboratories. We employed a convergent parallel mixed-methods design, collecting quantitative survey data and qualitative insights from structured interviews with fifteen participants across various clinical roles. The findings indicate a wide adoption of Galaxy, with participants expressing high satisfaction due to its user-friendly interface and notable improvements in workflow efficiency and diagnostic accuracy. Challenges such as data security and training needs were also identified, highlighting the platform's role in simplifying complex data analysis tasks. This study contributes to understanding the transformative potential of Galaxy in clinical practice and offers recommendations for optimizing its integration and functionality. These insights are crucial for advancing clinical diagnostics and enhancing patient outcomes.

This paper is dedicated to the design and evaluation of the first AMR parser tailored for clinical notes. Our objective was to facilitate the precise transformation of the clinical notes into structured AMR expressions, thereby enhancing the interpretability and usability of clinical text data at scale. Leveraging the colon cancer dataset from the Temporal Histories of Your Medical Events (THYME) corpus, we adapted a state-of-the-art AMR parser utilizing continuous training. Our approach incorporates data augmentation techniques to enhance the accuracy of AMR structure predictions. Notably, through this learning strategy, our parser achieved an impressive F1 score of 88% on the THYME corpus's colon cancer dataset. Moreover, our research delved into the efficacy of data required for domain adaptation within the realm of clinical notes, presenting domain adaptation data requirements for AMR parsing. This exploration not only underscores the parser's robust performance but also highlights its potential in facilitating a deeper understanding of clinical narratives through structured semantic representations.

Despite the plethora of AI-based algorithms developed for anomaly detection in radiology, subsequent integration into clinical setting is rarely evaluated. In this work, we assess the applicability and utility of an AI-based model for brain aneurysm detection comparing the performance of two readers with different levels of experience (2 and 13 years). We aim to answer the following questions: 1) Do the readers improve their performance when assisted by the AI algorithm? 2) How much does the AI algorithm impact routine clinical workflow? We reuse and enlarge our open-access, Time-Of-Flight Magnetic Resonance Angiography dataset (N=460). We use 360 subjects for training/validating our algorithm and 100 as unseen test set for the reading session. Even though our model reaches state-of-the-art results on the test set (sensitivity=74%, false positive rate=1.6), we show that neither the junior nor the senior reader significantly increase their sensitivity (p=0.59, p=1, respectively). In addition, we find that reading time for both readers is significantly higher in the "AI-assisted" setting than in the "Unassisted" (+15 seconds, on average; p=3x10^(-4) junior, p=3x10^(-5) senior). The c

Clinical decision-making relies on the integrated analysis of medical images and the associated clinical reports. While Vision-Language Models (VLMs) can offer a unified framework for such tasks, they can exhibit strong biases toward one modality, frequently overlooking critical visual cues in favor of textual information. In this work, we introduce Selective Modality Shifting (SMS), a perturbation-based approach to quantify a model's reliance on each modality in binary classification tasks. By systematically swapping images or text between samples with opposing labels, we expose modality-specific biases. We assess six open-source VLMs-four generalist models and two fine-tuned for medical data-on two medical imaging datasets with distinct modalities: MIMIC-CXR (chest X-ray) and FairVLMed (scanning laser ophthalmoscopy). By assessing model performance and the calibration of every model in both unperturbed and perturbed settings, we reveal a marked dependency on text input, which persists despite the presence of complementary visual information. We also perform a qualitative attention-based analysis which further confirms that image content is often overshadowed by text details. Our

Essential life processes take place across multiple space and time scales in living organisms but understanding their mechanistic interactions remains an ongoing challenge. Advanced multiscale modeling techniques are providing new opportunities and insights into these complex processes. In cells, meters of chromatin are folded into a nucleus with a diameter on the order of microns. The three-dimensional chromatin structure coupled with biochemical processes that turn genes on or off, specify a given cell type through a complicated set of interactions collectively referred to as epigenetics. Important epigenetic processes include the differential accessibility of genomic loci to transcription factors and chemical modifications to DNA and DNA-binding molecules such as histones. The dynamics of these epigenetic processes span timescales from milliseconds to years. How do chemical modifications consisting of a handful of atoms cooperate to modulate genome folding at the scale of the nucleus and impact organism outcomes? In this review, we highlight the inherently multiscale nature of chromatin organization, with a focus on computational modeling to bridge the gaps in our understanding

Accurate segmentation of pulmonary vessels plays a very critical role in diagnosing and assessing various lung diseases. Currently, many automated algorithms are primarily targeted at CTPA (Computed Tomography Pulmonary Angiography) types of data. However, the segmentation precision of these methods is insufficient, and support for NCCT (Non-Contrast Computed Tomography) types of data is also a requirement in some clinical scenarios. In this study, we propose a 3D image segmentation algorithm for automated pulmonary vessel segmentation from both contrast-enhanced and non-contrast CT images. In the network, we designed a Vessel Lumen Structure Optimization Module (VLSOM), which extracts the centerline (Cl) of vessels and adjusts the weights based on the positional information and adds a Cl-Dice Loss to supervise the stability of the vessels structure. We used 427 sets of high-precision annotated CT data from multiple vendors and countries to train the model and achieved Cl-DICE, Cl-Recall, and Recall values of 0.892, 0.861, 0.924 for CTPA data and 0.925, 0.903, 0.949 for NCCT data. This shows that our model has achieved good performance in both accuracy and completeness of pulmonary

Clinical trials are critical in advancing medical treatments but often suffer from immense time and financial burden. Advances in statistical methodologies and artificial intelligence (AI) present opportunities to address these inefficiencies. Here we introduce Prognostic Covariate-Adjusted Mixed Models for Repeated Measures (PROCOVA-MMRM) as an advantageous combination of prognostic covariate adjustment (PROCOVA) and Mixed Models for Repeated Measures (MMRM). PROCOVA-MMRM utilizes time-matched prognostic scores generated from AI models to enhance the precision of treatment effect estimators for longitudinal continuous outcomes, enabling reductions in sample size and enrollment times. We first provide a description of the background and implementation of PROCOVA-MMRM, followed by two case study reanalyses where we compare the performance of PROCOVA-MMRM versus the unadjusted MMRM. These reanalyses demonstrate significant improvements in statistical power and precision in clinical indications with unmet medical need, specifically Alzheimer's Disease (AD) and Amyotrophic Lateral Sclerosis (ALS). We also explore the potential for sample size reduction with the prospective implementati

Ophthalmologists have used fundus images to screen and diagnose eye diseases. However, different equipments and ophthalmologists pose large variations to the quality of fundus images. Low-quality (LQ) degraded fundus images easily lead to uncertainty in clinical screening and generally increase the risk of misdiagnosis. Thus, real fundus image restoration is worth studying. Unfortunately, real clinical benchmark has not been explored for this task so far. In this paper, we investigate the real clinical fundus image restoration problem. Firstly, We establish a clinical dataset, Real Fundus (RF), including 120 low- and high-quality (HQ) image pairs. Then we propose a novel Transformer-based Generative Adversarial Network (RFormer) to restore the real degradation of clinical fundus images. The key component in our network is the Window-based Self-Attention Block (WSAB) which captures non-local self-similarity and long-range dependencies. To produce more visually pleasant results, a Transformer-based discriminator is introduced. Extensive experiments on our clinical benchmark show that the proposed RFormer significantly outperforms the state-of-the-art (SOTA) methods. In addition, expe

This paper describes our approach to the MEDIQA-CORR shared task, which involves error detection and correction in clinical notes curated by medical professionals. This task involves handling three subtasks: detecting the presence of errors, identifying the specific sentence containing the error, and correcting it. Through our work, we aim to assess the capabilities of Large Language Models (LLMs) trained on a vast corpora of internet data that contain both factual and unreliable information. We propose to comprehensively address all subtasks together, and suggest employing a unique prompt-based in-context learning strategy. We will evaluate its efficacy in this specialized task demanding a combination of general reasoning and medical knowledge. In medical systems where prediction errors can have grave consequences, we propose leveraging self-consistency and ensemble methods to enhance error correction and error detection performance.