搜索结果：Briefings in bioinformatics

Software defect detection is a critical task in software engineering. However, no prior studies have specifically addressed defect detection in bioinformatics software. Given that the performance of defect detection tasks is primarily influenced by both models and datasets, our experiments controlled for model-related factors and confirmed the limitations of existing datasets in bioinformatics software. To address this issue, we introduce BioDefect, the first dataset specifically designed for defect detection in bioinformatics software, aiming to overcome the limitations of existing datasets in this context. Unlike prior datasets, BioDefect includes complete source code repositories, preserving the actual contextual information of defective code, thereby more accurately reflecting real-world defect scenarios in bioinformatics software. Additionally, BioDefect mitigates issues related to label inconsistency and data leakage, ensuring high data quality and experimental reliability. To evaluate the effectiveness of BioDefect, we conduct a systematic assessment on nine language models (LMs), including DeepSeek-R1. The results demonstrate that BioDefect significantly enhances defect det

Artificial intelligence (AI), particularly machine learning and deep learning models, has significantly impacted bioinformatics research by offering powerful tools for analyzing complex biological data. However, the lack of interpretability and transparency of these models presents challenges in leveraging these models for deeper biological insights and for generating testable hypotheses. Explainable AI (XAI) has emerged as a promising solution to enhance the transparency and interpretability of AI models in bioinformatics. This review provides a comprehensive analysis of various XAI techniques and their applications across various bioinformatics domains including DNA, RNA, and protein sequence analysis, structural analysis, gene expression and genome analysis, and bioimaging analysis. We introduce the most pertinent machine learning and XAI methods, then discuss their diverse applications and address the current limitations of available XAI tools. By offering insights into XAI's potential and challenges, this review aims to facilitate its practical implementation in bioinformatics research and help researchers navigate the landscape of XAI tools.

The integration of bioinformatics predictions and experimental validation plays a pivotal role in advancing biological research, from understanding molecular mechanisms to developing therapeutic strategies. Bioinformatics tools and methods offer powerful means for predicting gene functions, protein interactions, and regulatory networks, but these predictions must be validated through experimental approaches to ensure their biological relevance. This review explores the various methods and technologies used for experimental validation, including gene expression analysis, protein-protein interaction verification, and pathway validation. We also discuss the challenges involved in translating computational predictions to experimental settings and highlight the importance of collaboration between bioinformatics and experimental research. Finally, emerging technologies, such as CRISPR gene editing, next-generation sequencing, and artificial intelligence, are shaping the future of bioinformatics validation and driving more accurate and efficient biological discoveries.

In the era of big data, transformation of biomedical big data into valuable knowledge has been one of the most important challenges in bioinformatics. Deep learning has advanced rapidly since the early 2000s and now demonstrates state-of-the-art performance in various fields. Accordingly, application of deep learning in bioinformatics to gain insight from data has been emphasized in both academia and industry. Here, we review deep learning in bioinformatics, presenting examples of current research. To provide a useful and comprehensive perspective, we categorize research both by the bioinformatics domain (i.e., omics, biomedical imaging, biomedical signal processing) and deep learning architecture (i.e., deep neural networks, convolutional neural networks, recurrent neural networks, emergent architectures) and present brief descriptions of each study. Additionally, we discuss theoretical and practical issues of deep learning in bioinformatics and suggest future research directions. We believe that this review will provide valuable insights and serve as a starting point for researchers to apply deep learning approaches in their bioinformatics studies.

Bioinformatics tools are essential for complex computational biology tasks, yet their integration with emerging AI-agent frameworks is hindered by incompatible interfaces, heterogeneous input-output formats, and inconsistent parameter conventions. The Model Context Protocol (MCP) provides a standardized framework for tool-AI communication, but manually converting hundreds of existing and rapidly growing specialized bioinformatics tools into MCP-compliant servers is labor-intensive and unsustainable. Here, we present BioinfoMCP, a unified platform comprising two components: BioinfoMCP Converter, which automatically generates robust MCP servers from tool documentation using large language models, and BioinfoMCP Benchmark, which systematically validates the reliability and versatility of converted tools across diverse computational tasks. We present a platform of 38 MCP-converted bioinformatics tools, extensively validated to show that 94.7% successfully executed complex workflows across three widely used AI-agent platforms. By removing technical barriers to AI automation, BioinfoMCP enables natural-language interaction with sophisticated bioinformatics analyses without requiring exte

A wide variety of large-scale data has been produced in bioinformatics. In response, the need for efficient handling of biomedical big data has been partly met by parallel computing. However, the time demand of many bioinformatics programs still remains high for large-scale practical uses due to factors that hinder acceleration by parallelization. Recently, new generations of storage devices have emerged, such as NAND flash-based solid-state drives (SSDs), and with the renewed interest in near-data processing, they are increasingly becoming acceleration methods that can accompany parallel processing. In certain cases, a simple drop-in replacement of hard disk drives (HDDs) by SSDs results in dramatic speedup. Despite the various advantages and continuous cost reduction of SSDs, there has been little review of SSD-based profiling and performance exploration of important but time-consuming bioinformatics programs. For an informative review, we perform in-depth profiling and analysis of 23 key bioinformatics programs using multiple types of devices. Based on the insight we obtain from this research, we further discuss issues related to design and optimize bioinformatics algorithms and

Large language models (LLMs) are a class of artificial intelligence models based on deep learning, which have great performance in various tasks, especially in natural language processing (NLP). Large language models typically consist of artificial neural networks with numerous parameters, trained on large amounts of unlabeled input using self-supervised or semi-supervised learning. However, their potential for solving bioinformatics problems may even exceed their proficiency in modeling human language. In this review, we will provide a comprehensive overview of the essential components of large language models (LLMs) in bioinformatics, spanning genomics, transcriptomics, proteomics, drug discovery, and single-cell analysis. Key aspects covered include tokenization methods for diverse data types, the architecture of transformer models, the core attention mechanism, and the pre-training processes underlying these models. Additionally, we will introduce currently available foundation models and highlight their downstream applications across various bioinformatics domains. Finally, drawing from our experience, we will offer practical guidance for both LLM users and developers, emphasi

The theoretical analysis of performance has been an important tool in the engineering of algorithms in many application domains. Its goals are to predict the empirical performance of an algorithm and to be a yardstick that drives the design of novel algorithms that perform well in practice. While these goals have been achieved in many instances, they have not been achieved ubiquitously across crucial application domains. I provide a case study in the area of sequencing bioinformatics, an inter-disciplinary field that uses algorithms to extract biological meaning from genome sequencing data. In particular, I give three concrete examples: two showing how theoretical analysis has failed to achieve its goals and one showing how it has been successful. I will then catalog some of the challenges of applying theoretical analysis to sequencing bioinformatics, argue why empirical analysis is not enough, and give a vision for improving the relevance of theoretical analysis to sequencing bioinformatics. By recognizing the problem, understanding its roots, and providing potential solutions, this work can hopefully be a crucial first step towards making theoretical analysis more relevant in seq

With the fast-growing and evolving omics data, the demand for streamlined and adaptable tools to handle the analysis continues to grow. In response to this need, we introduce Auto Bioinformatics Analysis (AutoBA), an autonomous AI agent based on a large language model designed explicitly for conventional omics data analysis. AutoBA simplifies the analytical process by requiring minimal user input while delivering detailed step-by-step plans for various bioinformatics tasks. Through rigorous validation by expert bioinformaticians, AutoBA's robustness and adaptability are affirmed across a diverse range of omics analysis cases, including whole genome sequencing (WGS), RNA sequencing (RNA-seq), single-cell RNA-seq, ChIP-seq, and spatial transcriptomics. AutoBA's unique capacity to self-design analysis processes based on input data variations further underscores its versatility. Compared with online bioinformatic services, AutoBA deploys the analysis locally, preserving data privacy. Moreover, different from the predefined pipeline, AutoBA has adaptability in sync with emerging bioinformatics tools. Overall, AutoBA represents a convenient tool, offering robustness and adaptability for

Large language models (LLMs) such as ChatGPT have gained considerable interest across diverse research communities. Their notable ability for text completion and generation has inaugurated a novel paradigm for language-interfaced problem solving. However, the potential and efficacy of these models in bioinformatics remain incompletely explored. In this work, we study the performance LLMs on a wide spectrum of crucial bioinformatics tasks. These tasks include the identification of potential coding regions, extraction of named entities for genes and proteins, detection of antimicrobial and anti-cancer peptides, molecular optimization, and resolution of educational bioinformatics problems. Our findings indicate that, given appropriate prompts, LLMs like GPT variants can successfully handle most of these tasks. In addition, we provide a thorough analysis of their limitations in the context of complicated bioinformatics tasks. In conclusion, we believe that this work can provide new perspectives and motivate future research in the field of LLMs applications, AI for Science and bioinformatics.

Many of the current scientific advances in the life sciences have their origin in the intensive use of data for knowledge discovery. In no area this is so clear as in bioinformatics, led by technological breakthroughs in data acquisition technologies. It has been argued that bioinformatics could quickly become the field of research generating the largest data repositories, beating other data-intensive areas such as high-energy physics or astroinformatics. Over the last decade, deep learning has become a disruptive advance in machine learning, giving new live to the long-standing connectionist paradigm in artificial intelligence. Deep learning methods are ideally suited to large-scale data and, therefore, they should be ideally suited to knowledge discovery in bioinformatics and biomedicine at large. In this brief paper, we review key aspects of the application of deep learning in bioinformatics and medicine, drawing from the themes covered by the contributions to an ESANN 2018 special session devoted to this topic.

[Context] An evidence briefing is a concise and objective transfer medium that can present the main findings of a study to software engineers in the industry. Although practitioners and researchers have deemed Evidence Briefings useful, their production requires manual labor, which may be a significant challenge to their broad adoption. [Goal] The goal of this registered report is to describe an experimental protocol for evaluating LLM-generated evidence briefings for secondary studies in terms of content fidelity, ease of understanding, and usefulness, as perceived by researchers and practitioners, compared to human-made briefings. [Method] We developed an RAG-based LLM tool to generate evidence briefings. We used the tool to automatically generate two evidence briefings that had been manually generated in previous research efforts. We designed a controlled experiment to evaluate how the LLM-generated briefings compare to the human-made ones regarding perceived content fidelity, ease of understanding, and usefulness. [Results] To be reported after the experimental trials. [Conclusion] Depending on the experiment results.

Denoising diffusion models have emerged as one of the most powerful generative models in recent years. They have achieved remarkable success in many fields, such as computer vision, natural language processing (NLP), and bioinformatics. Although there are a few excellent reviews on diffusion models and their applications in computer vision and NLP, there is a lack of an overview of their applications in bioinformatics. This review aims to provide a rather thorough overview of the applications of diffusion models in bioinformatics to aid their further development in bioinformatics and computational biology. We start with an introduction of the key concepts and theoretical foundations of three cornerstone diffusion modeling frameworks (denoising diffusion probabilistic models, noise-conditioned scoring networks, and stochastic differential equations), followed by a comprehensive description of diffusion models employed in the different domains of bioinformatics, including cryo-EM data enhancement, single-cell data analysis, protein design and generation, drug and small molecule design, and protein-ligand interaction. The review is concluded with a summary of the potential new develop

Large Language Models (LLMs) are revolutionizing bioinformatics, enabling advanced analysis of DNA, RNA, proteins, and single-cell data. This survey provides a systematic review of recent advancements, focusing on genomic sequence modeling, RNA structure prediction, protein function inference, and single-cell transcriptomics. Meanwhile, we also discuss several key challenges, including data scarcity, computational complexity, and cross-omics integration, and explore future directions such as multimodal learning, hybrid AI models, and clinical applications. By offering a comprehensive perspective, this paper underscores the transformative potential of LLMs in driving innovations in bioinformatics and precision medicine.

While many good textbooks are available on Protein Structure, Molecular Simulations, Thermodynamics and Bioinformatics methods in general, there is no good introductory level book for the field of Structural Bioinformatics. This book aims to give an introduction into Structural Bioinformatics, which is where the previous topics meet to explore three dimensional protein structures through computational analysis. We provide an overview of existing computational techniques, to validate, simulate, predict and analyse protein structures. More importantly, it will aim to provide practical knowledge about how and when to use such techniques. We will consider proteins from three major vantage points: Protein structure quantification, Protein structure prediction, and Protein simulation & dynamics. Structural bioinformatics involves a variety of computational methods, all of which require input data. Typical inputs include protein structures and sequences, which are usually retrieved from a public or private database. This chapter introduces several key resources that make such data available, as well as a handful of tools that derive additional information from experimentally determine

Motivation: Bioinformatics is faced with a variety of problems that require human involvement. Tasks like genome annotation, image analysis, knowledge-base construction and protein structure determination all benefit from human input. In some cases people are needed in vast quantities while in others we need just a few with very rare abilities. Crowdsourcing encompasses an emerging collection of approaches for harnessing such distributed human intelligence. Recently, the bioinformatics community has begun to apply crowdsourcing in a variety of contexts, yet few resources are available that describe how these human-powered systems work and how to use them effectively in scientific domains. Results: Here, we provide a framework for understanding and applying several different types of crowdsourcing. The framework considers two broad classes: systems for solving large-volume 'microtasks' and systems for solving high-difficulty 'megatasks'. Within these classes, we discuss system types including: volunteer labor, games with a purpose, microtask markets and open innovation contests. We illustrate each system type with successful examples in bioinformatics and conclude with a guide for m

Bioinformatics research is characterized by voluminous and incremental datasets and complex data analytics methods. The machine learning methods used in bioinformatics are iterative and parallel. These methods can be scaled to handle big data using the distributed and parallel computing technologies. Usually big data tools perform computation in batch-mode and are not optimized for iterative processing and high data dependency among operations. In the recent years, parallel, incremental, and multi-view machine learning algorithms have been proposed. Similarly, graph-based architectures and in-memory big data tools have been developed to minimize I/O cost and optimize iterative processing. However, there lack standard big data architectures and tools for many important bioinformatics problems, such as fast construction of co-expression and regulatory networks and salient module identification, detection of complexes over growing protein-protein interaction data, fast analysis of massive DNA, RNA, and protein sequence data, and fast querying on incremental and heterogeneous disease networks. This paper addresses the issues and challenges posed by several big data problems in bioinfor

Background, enhancing interoperability of bioinformatics knowledge bases is a high priority requirement to maximize data reusability, and thus increase their utility such as the return on investment for biomedical research. A knowledge base may provide useful information for life scientists and other knowledge bases, but it only acquires exchange value once the knowledge base is (re)used, and without interoperability the utility lies dormant. Results, in this article, we discuss several approaches to boost interoperability depending on the interoperable parts. The findings are driven by several real-world scenario examples that were mostly implemented by Bgee, a well-established gene expression database. To better justify the findings are transferable, for each Bgee interoperability experience, we also highlight similar implementations by major bioinformatics knowledge bases. Moreover, we discuss ten general main lessons learnt. These lessons can be applied in the context of any bioinformatics knowledge base to foster data reusability. Conclusions, this work provides pragmatic methods and transferable skills to promote reusability of bioinformatics knowledge bases by focusing on in

Many bioinformatics algorithms, such as sequence alignment and structure prediction, can be expressed as recurrence equations over a dynamic programming matrix. Efficient implementations of these algorithms for large-scale biological data often require changing the order in which matrix cells are calculated and pruning ineffectual regions of the matrix from consideration altogether, but these techniques typically complicate implementation. We introduce FILTR, a domain-specific language (DSL) and compiler framework for bioinformatics recurrences. FILTR keeps the core recurrence rules separate from the pruning and scheduling strategies, where pruning acts as an approximation to limit where in the DP matrix cells are computed, and scheduling determines the iteration order for how cells are explored. FILTR compiles these high-level descriptions into optimized C++ code that matches the performance of hand-tuned implementations while enabling rapid exploration of new heuristics. FILTR is competitive with hand-optimized sequence-alignment libraries, ranging from 0.95x to 30x faster across biological benchmarks.