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.

Building a large gene expression-cancer knowledge base with limited human annotations.

Cancer prevention is one of the most pressing challenges that public health needs to face. In this regard, data-driven research is central to assist medical solutions targeting cancer. To fully harness the power of data-driven research, it is imperative to have well-organized machine-readable facts into a knowledge base (KB). Motivated by this urgent need, we introduce the Collaborative Oriented Relation Extraction (CORE) system for building KBs with limited manual annotations. CORE is based on the combination of distant supervision and active learning paradigms and offers a seamless, transparent, modular architecture equipped for large-scale processing. We focus on precision medicine and build the largest KB on 'fine-grained' gene expression-cancer associations-a key to complement and validate experimental data for cancer research. We show the robustness of CORE and discuss the usefulness of the provided KB. Database URL https://zenodo.org/record/7577127.

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.

Search, access, and explore life science nanopublications on the Web.

Nanopublications are Resource Description Framework (RDF) graphs encoding scientific facts extracted from the literature and enriched with provenance and attribution information. There are millions of nanopublications currently available on the Web, especially in the life science domain. Nanopublications are thought to facilitate the discovery, exploration, and re-use of scientific facts. Nevertheless, they are still not widely used by scientists outside specific circles; they are hard to find and rarely cited. We believe this is due to the lack of services to seek, find and understand nanopublications' content. To this end, we present the NanoWeb application to seamlessly search, access, explore, and re-use the nanopublications publicly available on the Web. For the time being, NanoWeb focuses on the life science domain where the vastest amount of nanopublications are available. It is a unified access point to the world of nanopublications enabling search over graph data, direct connections to evidence papers, and scientific curated databases, and visual and intuitive exploration of the relation network created by the encoded scientific facts.