MOTIVATION: Automatic information extraction from biomedical texts requires machine learning methodology that can recognize biomedical entities, characterize inter-entity relationships, and relate extracted information to specific research topics. Large language models (LLMs) excel in general tasks but perform less reliably in the biomedical domain, where texts are characterized by extensive technical terminology and semantic variations from general literature. There is an unmet need for annotated full-text datasets that can be used to fine-tune language models for significant biomedical applications. Here, we focus on extraction of the complex relationships between genes and diseases. RESULTS: We present BioTriplex, a corpus of 100 full-length biomedical research articles (comprising 604 subsection texts) manually annotated with disease names, genes, and 21 subtypes of disease-gene relationships. We employ BioTriplex to train the LLaMA 3.1 8B language model in gene-disease relation extraction. Our fine-tuned model outperforms zero-shot and few-shot approaches, both within the LLaMA 3.1 architecture and across the larger state-of-the-art LLMs GPT-4 and Claude Sonnet 3.7, and classifies gene-disease relation types with broader scope and greater granularity than previously described. These results validate BioTriplex as a useful full-text data resource and underscore the value of specialized datasets in fine-tuning language models for important biomedical tasks. AVAILABILITY AND IMPLEMENTATION: https://github.com/PanagiotisFytas/BioTriplex.

MOTIVATION: Scientific advances build on the findings of existing research. The 2001 publication of the human genome has led to the production of huge volumes of literature exploring the context-specific functions and interactions of genes. Technology is needed to perform large-scale text mining of research papers to extract the reported actions of genes in specific experimental contexts and cell states, such as cancer, thereby facilitating the design of new therapeutic strategies. RESULTS: We present a new corpus and Text Mining methodology that can accurately identify and extract the most important details of cancer genomics experiments from biomedical texts. We build a Named Entity Recognition model that accurately extracts relevant experiment details from PubMed abstract text, and a second model that identifies the relationships between them. This system outperforms earlier models and enables the analysis of gene function in diverse and dynamically evolving experimental contexts. AVAILABILITY AND IMPLEMENTATION: Code and data are available here: https://github.com/cambridgeltl/functional-genomics-ie.

MOTIVATION: The overwhelming size and rapid growth of the biomedical literature make it impossible for scientists to read all studies related to their work, potentially leading to missed connections and wasted time and resources. Literature-based discovery (LBD) aims to alleviate these issues by identifying implicit links between disjoint parts of the literature. While LBD has been studied in depth since its introduction three decades ago, there has been limited work making use of recent advances in biomedical text processing methods in LBD. RESULTS: We present LION LBD, a literature-based discovery system that enables researchers to navigate published information and supports hypothesis generation and testing. The system is built with a particular focus on the molecular biology of cancer using state-of-the-art machine learning and natural language processing methods, including named entity recognition and grounding to domain ontologies covering a wide range of entity types and a novel approach to detecting references to the hallmarks of cancer in text. LION LBD implements a broad selection of co-occurrence based metrics for analyzing the strength of entity associations, and its design allows real-time search to discover indirect associations between entities in a database of tens of millions of publications while preserving the ability of users to explore each mention in its original context in the literature. Evaluations of the system demonstrate its ability to identify undiscovered links and rank relevant concepts highly among potential connections. AVAILABILITY AND IMPLEMENTATION: The LION LBD system is available via a web-based user interface and a programmable API, and all components of the system are made available under open licenses from the project home page http://lbd.lionproject.net. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

MOTIVATION: To understand the molecular mechanisms involved in cancer development, significant efforts are being invested in cancer research. This has resulted in millions of scientific articles. An efficient and thorough review of the existing literature is crucially important to drive new research. This time-demanding task can be supported by emerging computational approaches based on text mining which offer a great opportunity to organize and retrieve the desired information efficiently from sizable databases. One way to organize existing knowledge on cancer is to utilize the widely accepted framework of the Hallmarks of Cancer. These hallmarks refer to the alterations in cell behaviour that characterize the cancer cell. RESULTS: We created an extensive Hallmarks of Cancer taxonomy and developed automatic text mining methodology and a tool (CHAT) capable of retrieving and organizing millions of cancer-related references from PubMed into the taxonomy. The efficiency and accuracy of the tool was evaluated intrinsically as well as extrinsically by case studies. The correlations identified by the tool show that it offers a great potential to organize and correctly classify cancer-related literature. Furthermore, the tool can be useful, for example, in identifying hallmarks associated with extrinsic factors, biomarkers and therapeutics targets. AVAILABILITY AND IMPLEMENTATION: CHAT can be accessed at: http://chat.lionproject.net. The corpus of hallmark-annotated PubMed abstracts and the software are available at: http://chat.lionproject.net/about. CONTACT: [email protected]. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

MOTIVATION: The hallmarks of cancer have become highly influential in cancer research. They reduce the complexity of cancer into 10 principles (e.g. resisting cell death and sustaining proliferative signaling) that explain the biological capabilities acquired during the development of human tumors. Since new research depends crucially on existing knowledge, technology for semantic classification of scientific literature according to the hallmarks of cancer could greatly support literature review, knowledge discovery and applications in cancer research. RESULTS: We present the first step toward the development of such technology. We introduce a corpus of 1499 PubMed abstracts annotated according to the scientific evidence they provide for the 10 currently known hallmarks of cancer. We use this corpus to train a system that classifies PubMed literature according to the hallmarks. The system uses supervised machine learning and rich features largely based on biomedical text mining. We report good performance in both intrinsic and extrinsic evaluations, demonstrating both the accuracy of the methodology and its potential in supporting practical cancer research. We discuss how this approach could be developed and applied further in the future. AVAILABILITY AND IMPLEMENTATION: The corpus of hallmark-annotated PubMed abstracts and the software for classification are available at: http://www.cl.cam.ac.uk/∼sb895/HoC.html. CONTACT: [email protected].

MOTIVATION: Information structure (IS) analysis is a text mining technique, which classifies text in biomedical articles into categories that capture different types of information, such as objectives, methods, results and conclusions of research. It is a highly useful technique that can support a range of Biomedical Text Mining tasks and can help readers of biomedical literature find information of interest faster, accelerating the highly time-consuming process of literature review. Several approaches to IS analysis have been presented in the past, with promising results in real-world biomedical tasks. However, all existing approaches, even weakly supervised ones, require several hundreds of hand-annotated training sentences specific to the domain in question. Because biomedicine is subject to considerable domain variation, such annotations are expensive to obtain. This makes the application of IS analysis across biomedical domains difficult. In this article, we investigate an unsupervised approach to IS analysis and evaluate the performance of several unsupervised methods on a large corpus of biomedical abstracts collected from PubMed. RESULTS: Our best unsupervised algorithm (multilevel-weighted graph clustering algorithm) performs very well on the task, obtaining over 0.70 F scores for most IS categories when applied to well-known IS schemes. This level of performance is close to that of lightly supervised IS methods and has proven sufficient to aid a range of practical tasks. Thus, using an unsupervised approach, IS could be applied to support a wide range of tasks across sub-domains of biomedicine. We also demonstrate that unsupervised learning brings novel insights into IS of biomedical literature and discovers information categories that are not present in any of the existing IS schemes. AVAILABILITY AND IMPLEMENTATION: The annotated corpus and software are available at http://www.cl.cam.ac.uk/∼dk427/bio14info.html.

MOTIVATION: Techniques that are capable of automatically analyzing the information structure of scientific articles could be highly useful for improving information access to biomedical literature. However, most existing approaches rely on supervised machine learning (ML) and substantial labeled data that are expensive to develop and apply to different sub-fields of biomedicine. Recent research shows that minimal supervision is sufficient for fairly accurate information structure analysis of biomedical abstracts. However, is it realistic for full articles given their high linguistic and informational complexity? We introduce and release a novel corpus of 50 biomedical articles annotated according to the Argumentative Zoning (AZ) scheme, and investigate active learning with one of the most widely used ML models-Support Vector Machines (SVM)-on this corpus. Additionally, we introduce two novel applications that use AZ to support real-life literature review in biomedicine via question answering and summarization. RESULTS: We show that active learning with SVM trained on 500 labeled sentences (6% of the corpus) performs surprisingly well with the accuracy of 82%, just 2% lower than fully supervised learning. In our question answering task, biomedical researchers find relevant information significantly faster from AZ-annotated than unannotated articles. In the summarization task, sentences extracted from particular zones are significantly more similar to gold standard summaries than those extracted from particular sections of full articles. These results demonstrate that active learning of full articles' information structure is indeed realistic and the accuracy is high enough to support real-life literature review in biomedicine. AVAILABILITY: The annotated corpus, our AZ classifier and the two novel applications are available at http://www.cl.cam.ac.uk/yg244/12bioinfo.html

MOTIVATION: Many practical tasks in biomedicine require accessing specific types of information in scientific literature; e.g. information about the methods, results or conclusions of the study in question. Several approaches have been developed to identify such information in scientific journal articles. The best of these have yielded promising results and proved useful for biomedical text mining tasks. However, relying on fully supervised machine learning (ml) and a large body of annotated data, existing approaches are expensive to develop and port to different tasks. A potential solution to this problem is to employ weakly supervised learning instead. In this article, we investigate a weakly supervised approach to identifying information structure according to a scheme called Argumentative Zoning (az). We apply four weakly supervised classifiers to biomedical abstracts and evaluate their performance both directly and in a real-life scenario in the context of cancer risk assessment. RESULTS: Our best weakly supervised classifier (based on the combination of active learning and self-training) performs well on the task, outperforming our best supervised classifier: it yields a high accuracy of 81% when just 10% of the labeled data is used for training. When cancer risk assessors are presented with the resulting annotated abstracts, they find relevant information in them significantly faster than when presented with unannotated abstracts. These results suggest that weakly supervised learning could be used to improve the practical usefulness of information structure for real-life tasks in biomedicine.

BACKGROUND: Many practical tasks in biomedicine require accessing specific types of information in scientific literature; e.g. information about the results or conclusions of the study in question. Several schemes have been developed to characterize such information in scientific journal articles. For example, a simple section-based scheme assigns individual sentences in abstracts under sections such as Objective, Methods, Results and Conclusions. Some schemes of textual information structure have proved useful for biomedical text mining (BIO-TM) tasks (e.g. automatic summarization). However, user-centered evaluation in the context of real-life tasks has been lacking. METHODS: We take three schemes of different type and granularity--those based on section names, Argumentative Zones (AZ) and Core Scientific Concepts (CoreSC)--and evaluate their usefulness for a real-life task which focuses on biomedical abstracts: Cancer Risk Assessment (CRA). We annotate a corpus of CRA abstracts according to each scheme, develop classifiers for automatic identification of the schemes in abstracts, and evaluate both the manual and automatic classifications directly as well as in the context of CRA. RESULTS: Our results show that for each scheme, the majority of categories appear in abstracts, although two of the schemes (AZ and CoreSC) were developed originally for full journal articles. All the schemes can be identified in abstracts relatively reliably using machine learning. Moreover, when cancer risk assessors are presented with scheme annotated abstracts, they find relevant information significantly faster than when presented with unannotated abstracts, even when the annotations are produced using an automatic classifier. Interestingly, in this user-based evaluation the coarse-grained scheme based on section names proved nearly as useful for CRA as the finest-grained CoreSC scheme. CONCLUSIONS: We have shown that existing schemes aimed at capturing information structure of scientific documents can be applied to biomedical abstracts and can be identified in them automatically with an accuracy which is high enough to benefit a real-life task in biomedicine.

BACKGROUND: One of the most neglected areas of biomedical Text Mining (TM) is the development of systems based on carefully assessed user needs. We have recently investigated the user needs of an important task yet to be tackled by TM -- Cancer Risk Assessment (CRA). Here we take the first step towards the development of TM technology for the task: identifying and organizing the scientific evidence required for CRA in a taxonomy which is capable of supporting extensive data gathering from biomedical literature. RESULTS: The taxonomy is based on expert annotation of 1297 abstracts downloaded from relevant PubMed journals. It classifies 1742 unique keywords found in the corpus to 48 classes which specify core evidence required for CRA. We report promising results with inter-annotator agreement tests and automatic classification of PubMed abstracts to taxonomy classes. A simple user test is also reported in a near real-world CRA scenario which demonstrates along with other evaluation that the resources we have built are well-defined, accurate, and applicable in practice. CONCLUSION: We present our annotation guidelines and a tool which we have designed for expert annotation of PubMed abstracts. A corpus annotated for keywords and document relevance is also presented, along with the taxonomy which organizes the keywords into classes defining core evidence for CRA. As demonstrated by the evaluation, the materials we have constructed provide a good basis for classification of CRA literature along multiple dimensions. They can support current manual CRA as well as facilitate the development of an approach based on TM. We discuss extending the taxonomy further via manual and machine learning approaches and the subsequent steps required to develop TM technology for the needs of CRA.