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A Systematic Review on the Generative AI Applications in Human Medical Genomics

arXiv.org Artificial Intelligence

Although traditional statistical techniques and machine learning methods have contributed significantly to genetics and, in particular, inherited disease diagnosis, they often struggle with complex, high-dimensional data, a challenge now addressed by state-of-the-art deep learning models. Large language models (LLMs), based on transformer architectures, have excelled in tasks requiring contextual comprehension of unstructured medical data. This systematic review examines the role of LLMs in the genetic research and diagnostics of both rare and common diseases. Automated keyword-based search in PubMed, bioRxiv, medRxiv, and arXiv was conducted, targeting studies on LLM applications in diagnostics and education within genetics and removing irrelevant or outdated models. A total of 172 studies were analyzed, highlighting applications in genomic variant identification, annotation, and interpretation, as well as medical imaging advancements through vision transformers. Key findings indicate that while transformer-based models significantly advance disease and risk stratification, variant interpretation, medical imaging analysis, and report generation, major challenges persist in integrating multimodal data (genomic sequences, imaging, and clinical records) into unified and clinically robust pipelines, facing limitations in generalizability and practical implementation in clinical settings. This review provides a comprehensive classification and assessment of the current capabilities and limitations of LLMs in transforming hereditary disease diagnostics and supporting genetic education, serving as a guide to navigate this rapidly evolving field.


ArgRAG: Explainable Retrieval Augmented Generation using Quantitative Bipolar Argumentation

arXiv.org Artificial Intelligence

Retrieval-Augmented Generation (RAG) enhances large language models by incorporating external knowledge, yet suffers from critical limitations in high-stakes domains -- namely, sensitivity to noisy or contradictory evidence and opaque, stochastic decision-making. We propose ArgRAG, an explainable, and contestable alternative that replaces black-box reasoning with structured inference using a Quantitative Bipolar Argumentation Framework (QBAF). ArgRAG constructs a QBAF from retrieved documents and performs deterministic reasoning under gradual semantics. This allows faithfully explaining and contesting decisions. Evaluated on two fact verification benchmarks, PubHealth and RAGuard, ArgRAG achieves strong accuracy while significantly improving transparency.


Bridging Compositional and Distributional Semantics: A Survey on Latent Semantic Geometry via AutoEncoder

arXiv.org Artificial Intelligence

Integrating compositional and symbolic properties into current distributional semantic spaces can enhance the interpretability, controllability, compositionality, and generalisation capabilities of Transformer-based auto-regressive language models (LMs). In this survey, we offer a novel perspective on latent space geometry through the lens of compositional semantics, a direction we refer to as \textit{semantic representation learning}. This direction enables a bridge between symbolic and distributional semantics, helping to mitigate the gap between them. We review and compare three mainstream autoencoder architectures-Variational AutoEncoder (VAE), Vector Quantised VAE (VQVAE), and Sparse AutoEncoder (SAE)-and examine the distinctive latent geometries they induce in relation to semantic structure and interpretability.


An Agile Method for Implementing Retrieval Augmented Generation Tools in Industrial SMEs

arXiv.org Artificial Intelligence

Retrieval-Augmented Generation (RAG) has emerged as a powerful solution to mitigate the limitations of Large Language Models (LLMs), such as hallucinations and outdated knowledge. However, deploying RAG-based tools in Small and Medium Enterprises (SMEs) remains a challenge due to their limited resources and lack of expertise in natural language processing (NLP). This paper introduces EASI-RAG, Enterprise Application Support for Industrial RAG, a structured, agile method designed to facilitate the deployment of RAG systems in industrial SME contexts. EASI-RAG is based on method engineering principles and comprises well-defined roles, activities, and techniques. The method was validated through a real-world case study in an environmental testing laboratory, where a RAG tool was implemented to answer operators queries using data extracted from operational procedures. The system was deployed in under a month by a team with no prior RAG experience and was later iteratively improved based on user feedback. Results demonstrate that EASI-RAG supports fast implementation, high user adoption, delivers accurate answers, and enhances the reliability of underlying data. This work highlights the potential of RAG deployment in industrial SMEs. Future works include the need for generalization across diverse use cases and further integration with fine-tuned models.


To New Beginnings: A Survey of Unified Perception in Autonomous Vehicle Software

arXiv.org Artificial Intelligence

Autonomous vehicle perception typically relies on modular pipelines that decompose the task into detection, tracking, and prediction. While interpretable, these pipelines suffer from error accumulation and limited inter-task synergy. Unified perception has emerged as a promising paradigm that integrates these sub-tasks within a shared architecture, potentially improving robustness, contextual reasoning, and efficiency while retaining interpretable outputs. In this survey, we provide a comprehensive overview of unified perception, introducing a holistic and systemic taxonomy that categorizes methods along task integration, tracking formulation, and representation flow. We define three paradigms -Early, Late, and Full Unified Perception- and systematically review existing methods, their architectures, training strategies, datasets used, and open-source availability, while highlighting future research directions. This work establishes the first comprehensive framework for understanding and advancing unified perception, consolidates fragmented efforts, and guides future research toward more robust, generalizable, and interpretable perception.


Looking Beyond the Obvious: A Survey on Abstract Concept Recognition for Video Understanding

arXiv.org Artificial Intelligence

The automatic understanding of video content is advancing rapidly. Empowered by deeper neural networks and large datasets, machines are increasingly capable of understanding what is concretely visible in video frames, whether it be objects, actions, events, or scenes. In comparison, humans retain a unique ability to also look beyond concrete entities and recognize abstract concepts like justice, freedom, and togetherness. Abstract concept recognition forms a crucial open challenge in video understanding, where reasoning on multiple semantic levels based on contextual information is key. In this paper, we argue that the recent advances in foundation models make for an ideal setting to address abstract concept understanding in videos. Automated understanding of high-level abstract concepts is imperative as it enables models to be more aligned with human reasoning and values. In this survey, we study different tasks and datasets used to understand abstract concepts in video content. We observe that, periodically and over a long period, researchers have attempted to solve these tasks, making the best use of the tools available at their disposal. We advocate that drawing on decades of community experience will help us shed light on this important open grand challenge and avoid ``re-inventing the wheel'' as we start revisiting it in the era of multi-modal foundation models.


Rethinking Testing for LLM Applications: Characteristics, Challenges, and a Lightweight Interaction Protocol

arXiv.org Artificial Intelligence

Applications of Large Language Models~(LLMs) have evolved from simple text generators into complex software systems that integrate retrieval augmentation, tool invocation, and multi-turn interactions. Their inherent non-determinism, dynamism, and context dependence pose fundamental challenges for quality assurance. This paper decomposes LLM applications into a three-layer architecture: \textbf{\textit{System Shell Layer}}, \textbf{\textit{Prompt Orchestration Layer}}, and \textbf{\textit{LLM Inference Core}}. We then assess the applicability of traditional software testing methods in each layer: directly applicable at the shell layer, requiring semantic reinterpretation at the orchestration layer, and necessitating paradigm shifts at the inference core. A comparative analysis of Testing AI methods from the software engineering community and safety analysis techniques from the AI community reveals structural disconnects in testing unit abstraction, evaluation metrics, and lifecycle management. We identify four fundamental differences that underlie 6 core challenges. To address these, we propose four types of collaborative strategies (\emph{Retain}, \emph{Translate}, \emph{Integrate}, and \emph{Runtime}) and explore a closed-loop, trustworthy quality assurance framework that combines pre-deployment validation with runtime monitoring. Based on these strategies, we offer practical guidance and a protocol proposal to support the standardization and tooling of LLM application testing. We propose a protocol \textbf{\textit{Agent Interaction Communication Language}} (AICL) that is used to communicate between AI agents. AICL has the test-oriented features and is easily integrated in the current agent framework.


Task Allocation for Autonomous Machines using Computational Intelligence and Deep Reinforcement Learning

arXiv.org Artificial Intelligence

Enabling multiple autonomous machines to perform reliably requires the development of efficient cooperative control algorithms. This paper presents a survey of algorithms that have been developed for controlling and coordinating autonomous machines in complex environments. We especially focus on task allocation methods using computational intelligence (CI) and deep reinforcement learning (RL). The advantages and disadvantages of the surveyed methods are analysed thoroughly. We also propose and discuss in detail various future research directions that shed light on how to improve existing algorithms or create new methods to enhance the employability and performance of autonomous machines in real-world applications. The findings indicate that CI and deep RL methods provide viable approaches to addressing complex task allocation problems in dynamic and uncertain environments. The recent development of deep RL has greatly contributed to the literature on controlling and coordinating autonomous machines, and it has become a growing trend in this area. It is envisaged that this paper will provide researchers and engineers with a comprehensive overview of progress in machine learning research related to autonomous machines. It also highlights underexplored areas, identifies emerging methodologies, and suggests new avenues for exploration in future research within this domain.


Bridging Minds and Machines: Toward an Integration of AI and Cognitive Science

arXiv.org Artificial Intelligence

Cognitive Science has profoundly shaped disciplines such as Artificial Intelligence (AI), Philosophy, Psychology, Neuroscience, Linguistics, and Culture. Many breakthroughs in AI trace their roots to cognitive theories, while AI itself has become an indispensable tool for advancing cognitive research. This reciprocal relationship motivates a comprehensive review of the intersections between AI and Cognitive Science. By synthesizing key contributions from both perspectives, we observe that AI progress has largely emphasized practical task performance, whereas its cognitive foundations remain conceptually fragmented. We argue that the future of AI within Cognitive Science lies not only in improving performance but also in constructing systems that deepen our understanding of the human mind. Promising directions include aligning AI behaviors with cognitive frameworks, situating AI in embodiment and culture, developing personalized cognitive models, and rethinking AI ethics through cognitive co-evaluation.


A Review on Sound Source Localization in Robotics: Focusing on Deep Learning Methods

arXiv.org Artificial Intelligence

Sound source localization (SSL) adds a spatial dimension to auditory perception, allowing a system to pinpoint the origin of speech, machinery noise, warning tones, or other acoustic events, capabilities that facilitate robot navigation, human-machine dialogue, and condition monitoring. While existing surveys provide valuable historical context, they typically address general audio applications and do not fully account for robotic constraints or the latest advancements in deep learning. This review addresses these gaps by offering a robotics-focused synthesis, emphasizing recent progress in deep learning methodologies. We start by reviewing classical methods such as Time Difference of Arrival (TDOA), beamforming, Steered-Response Power (SRP), and subspace analysis. Subsequently, we delve into modern machine learning (ML) and deep learning (DL) approaches, discussing traditional ML and neural networks (NNs), convolutional neural networks (CNNs), convolutional recurrent neural networks (CRNNs), and emerging attention-based architectures. The data and training strategy that are the two cornerstones of DL-based SSL are explored. Studies are further categorized by robot types and application domains to facilitate researchers in identifying relevant work for their specific contexts. Finally, we highlight the current challenges in SSL works in general, regarding environmental robustness, sound source multiplicity, and specific implementation constraints in robotics, as well as data and learning strategies in DL-based SSL. Also, we sketch promising directions to offer an actionable roadmap toward robust, adaptable, efficient, and explainable DL-based SSL for next-generation robots.