MetaTron: advancing biomedical annotation empowering relation annotation and collaboration.

BACKGROUND: The constant growth of biomedical data is accompanied by the need for new methodologies to effectively and efficiently extract machine-readable knowledge for training and testing purposes. A crucial aspect in this regard is creating large, often manually or semi-manually, annotated corpora vital for developing effective and efficient methods for tasks like relation extraction, topic recognition, and entity linking. However, manual annotation is expensive and time-consuming especially if not assisted by interactive, intuitive, and collaborative computer-aided tools. To support healthcare experts in the annotation process and foster annotated corpora creation, we present MetaTron. MetaTron is an open-source and free-to-use web-based annotation tool to annotate biomedical data interactively and collaboratively; it supports both mention-level and document-level annotations also integrating automatic built-in predictions. Moreover, MetaTron enables relation annotation with the support of ontologies, functionalities often overlooked by off-the-shelf annotation tools. RESULTS: We conducted a qualitative analysis to compare MetaTron with a set of manual annotation tools including TeamTat, INCEpTION, LightTag, MedTAG, and brat, on three sets of criteria: technical, data, and functional. A quantitative evaluation allowed us to assess MetaTron performances in terms of time and number of clicks to annotate a set of documents. The results indicated that MetaTron fulfills almost all the selected criteria and achieves the best performances. CONCLUSIONS: MetaTron stands out as one of the few annotation tools targeting the biomedical domain supporting the annotation of relations, and fully customizable with documents in several formats-PDF included, as well as abstracts retrieved from PubMed, Semantic Scholar, and OpenAIRE. To meet any user need, we released MetaTron both as an online instance and as a Docker image locally deployable.

Modelling digital health data: The ExaMode ontology for computational pathology.

Computational pathology can significantly benefit from ontologies to standardize the employed nomenclature and help with knowledge extraction processes for high-quality annotated image datasets. The end goal is to reach a shared model for digital pathology to overcome data variability and integration problems. Indeed, data annotation in such a specific domain is still an unsolved challenge and datasets cannot be steadily reused in diverse contexts due to heterogeneity issues of the adopted labels, multilingualism, and different clinical practices. Material and methods: This paper presents the ExaMode ontology, modeling the histopathology process by considering 3 key cancer diseases (colon, cervical, and lung tumors) and celiac disease. The ExaMode ontology has been designed bottom-up in an iterative fashion with continuous feedback and validation from pathologists and clinicians. The ontology is organized into 5 semantic areas that defines an ontological template to model any disease of interest in histopathology. Results: The ExaMode ontology is currently being used as a common semantic layer in: (i) an entity linking tool for the automatic annotation of medical records; (ii) a web-based collaborative annotation tool for histopathology text reports; and (iii) a software platform for building holistic solutions integrating multimodal histopathology data. Discussion: The ontology ExaMode is a key means to store data in a graph database according to the RDF data model. The creation of an RDF dataset can help develop more accurate algorithms for image analysis, especially in the field of digital pathology. This approach allows for seamless data integration and a unified query access point, from which we can extract relevant clinical insights about the considered diseases using SPARQL queries.

Empowering digital pathology applications through explainable knowledge extraction tools.

Exa-scale volumes of medical data have been produced for decades. In most cases, the diagnosis is reported in free text, encoding medical knowledge that is still largely unexploited. In order to allow decoding medical knowledge included in reports, we propose an unsupervised knowledge extraction system combining a rule-based expert system with pre-trained Machine Learning (ML) models, namely the Semantic Knowledge Extractor Tool (SKET). Combining rule-based techniques and pre-trained ML models provides high accuracy results for knowledge extraction. This work demonstrates the viability of unsupervised Natural Language Processing (NLP) techniques to extract critical information from cancer reports, opening opportunities such as data mining for knowledge extraction purposes, precision medicine applications, structured report creation, and multimodal learning. SKET is a practical and unsupervised approach to extracting knowledge from pathology reports, which opens up unprecedented opportunities to exploit textual and multimodal medical information in clinical practice. We also propose SKET eXplained (SKET X), a web-based system providing visual explanations about the algorithmic decisions taken by SKET. SKET X is designed/developed to support pathologists and domain experts in understanding SKET predictions, possibly driving further improvements to the system.

MedTAG: a portable and customizable annotation tool for biomedical documents.

BACKGROUND: Semantic annotators and Natural Language Processing (NLP) methods for Named Entity Recognition and Linking (NER+L) require plenty of training and test data, especially in the biomedical domain. Despite the abundance of unstructured biomedical data, the lack of richly annotated biomedical datasets poses hindrances to the further development of NER+L algorithms for any effective secondary use. In addition, manual annotation of biomedical documents performed by physicians and experts is a costly and time-consuming task. To support, organize and speed up the annotation process, we introduce MedTAG, a collaborative biomedical annotation tool that is open-source, platform-independent, and free to use/distribute. RESULTS: We present the main features of MedTAG and how it has been employed in the histopathology domain by physicians and experts to annotate more than seven thousand clinical reports manually. We compare MedTAG with a set of well-established biomedical annotation tools, including BioQRator, ezTag, MyMiner, and tagtog, comparing their pros and cons with those of MedTag. We highlight that MedTAG is one of the very few open-source tools provided with an open license and a straightforward installation procedure supporting cross-platform use. CONCLUSIONS: MedTAG has been designed according to five requirements (i.e. available, distributable, installable, workable and schematic) defined in a recent extensive review of manual annotation tools. Moreover, MedTAG satisfies 20 over 22 criteria specified in the same study.