Visualizing omics and clinical data: Which challenges for dealing with their variety?

Life sciences are currently going through a great number of transformations raised by the in-going revolution in high-throughput technologies for the acquisition of data. The integration of their high dimensionality, ranging from omics to clinical data, is becoming one of the most challenging stages. It involves inter-disciplinary developments with the aim to move towards an enhanced understanding of human physiology for caring purposes. Biologists, bioinformaticians, physicians and other experts related to the healthcare domain have to accompany each step of the analysis process in order to investigate and expertise these various data. In this perspective, methods related to information visualization are gaining increasing attention within life sciences. The softwares based on these methods are now well recognized to facilitate expert users' success in carrying out their data analysis tasks. This article aims at reviewing the current methods and techniques dedicated to information visualisation and their current use in software development related to omics or/and clinical data.

Integrating cancer diagnosis terminologies based on logical definitions of SNOMED CT concepts.

In oncology, the reuse of data is confronted with the heterogeneity of terminologies. It is necessary to semantically integrate these distinct terminologies. The semantic integration by using a third terminology as a support is a conventional approach for the integration of two terminologies that are not very structured. The aim of our study was to use SNOMED CT for integrating ICD-10 and ICD-O3. We used two complementary resources, mapping tables provided by SNOMED CT and the NCI Metathesaurus, in order to find mappings between ICD-10 or ICD-O3 concepts and SNOMED CT concepts. We used the SNOMED CT structure to filter inconsistent mappings, as well as to disambiguate multiple mappings. Based on the remaining mappings, we used semantic relations from SNOMED CT to establish links between ICD-10 and ICD-O3. Overall, the coverage of ICD-O3 and ICD10 codes was over 88%. Finally, we obtained an integration of 24% (203/852) of ICD-10 concepts with 86% (888/1032) of ICD-O3 morphology concepts combined to 39% (127/330) of ICD-O3 topography concepts. Comparing our results with the 23,684 ICD-O3 pairs mapped to ICD-10 concepts in the SEER conversion file, we found 17,447 pairs of ICD-O3 concepts in common among which 11,932 pairs were integrated with the same ICD-10 concept as the SEER conversion file. The automated process leverages logical definitions of SNOMED CT concepts. While the low quality of some of these definitions impacted negatively the integration process, the identification of such situations made it possible to indirectly audit the structure of SNOMED CT.

Reuse of termino-ontological resources and text corpora for building a multilingual domain ontology: an application to Alzheimer's disease.

Ontologies are useful tools for sharing and exchanging knowledge. However ontology construction is complex and often time consuming. In this paper, we present a method for building a bilingual domain ontology from textual and termino-ontological resources intended for semantic annotation and information retrieval of textual documents. This method combines two approaches: ontology learning from texts and the reuse of existing terminological resources. It consists of four steps: (i) term extraction from domain specific corpora (in French and English) using textual analysis tools, (ii) clustering of terms into concepts organized according to the UMLS Metathesaurus, (iii) ontology enrichment through the alignment of French and English terms using parallel corpora and the integration of new concepts, (iv) refinement and validation of results by domain experts. These validated results are formalized into a domain ontology dedicated to Alzheimer's disease and related syndromes which is available online (http://lesim.isped.u-bordeaux2.fr/SemBiP/ressources/ontoAD.owl). The latter currently includes 5765 concepts linked by 7499 taxonomic relationships and 10,889 non-taxonomic relationships. Among these results, 439 concepts absent from the UMLS were created and 608 new synonymous French terms were added. The proposed method is sufficiently flexible to be applied to other domains.

Enriching the FIDEO ontology with food-drug interactions from online knowledge sources.

The increasing number of articles on adverse interactions that may occur when specific foods are consumed with certain drugs makes it difficult to keep up with the latest findings. Conflicting information is available in the scientific literature and specialized knowledge bases because interactions are described in an unstructured or semi-structured format. The FIDEO ontology aims to integrate and represent information about food-drug interactions in a structured way. This article reports on the new version of this ontology in which more than 1700 interactions are integrated from two online resources: DrugBank and Hedrine. These food-drug interactions have been represented in FIDEO in the form of precompiled concepts, each of which specifies both the food and the drug involved. Additionally, competency questions that can be answered are reviewed, and avenues for further enrichment are discussed.

The OREGANO knowledge graph for computational drug repurposing.

Drug repositioning is a faster and more affordable solution than traditional drug discovery approaches. From this perspective, computational drug repositioning using knowledge graphs is a very promising direction. Knowledge graphs constructed from drug data and information can be used to generate hypotheses (molecule/drug - target links) through link prediction using machine learning algorithms. However, it remains rare to have a holistically constructed knowledge graph using the broadest possible features and drug characteristics, which is freely available to the community. The OREGANO knowledge graph aims at filling this gap. The purpose of this paper is to present the OREGANO knowledge graph, which includes natural compounds related data. The graph was developed from scratch by retrieving data directly from the knowledge sources to be integrated. We therefore designed the expected graph model and proposed a method for merging nodes between the different knowledge sources, and finally, the data were cleaned. The knowledge graph, as well as the source codes for the ETL process, are openly available on the GitHub of the OREGANO project ( https://gitub.u-bordeaux.fr/erias/oregano ).

Informatics for One Health.

OBJECTIVES: To introduce the 2023 International Medical Informatics Association (IMIA) Yearbook by the editors. METHODS: The editorial provides an introduction and overview to the 2023 IMIA Yearbook where the special topic is "Informatics for One Health". The special topic, survey papers and some best papers are discussed. The section changes in the Yearbook editorial committee are also described. RESULTS: IMIA Yearbook 2023 provides many perspectives on a relatively new topic called "One Digital Health". The subject is vast, and includes the use of digital technologies to promote the well-being of people and animals, but also of the environment in which they evolve. Many sections produced new work in the topic including One Health and all sections included the latest themes in many specialties in medical informatics. CONCLUSIONS: The theme of "Informatics for One Health" is relatively new but the editors of the IMIA Yearbook have presented excellent and thought-provoking work for biomedical informatics in 2023.

Towards a bilingual Alzheimer's disease terminology acquisition using a parallel corpus.

We present in this paper a method for acquiring a bilingual terminology concerning the Alzheimer's disease using a parallel corpus. NLP techniques are used for parsing English and French texts in order to extract candidate terms. These terms are then matched automatically using an approach that combines two alignment techniques: one based on the calculation of an association score between two terms, and another technique based on the calculation of morphological similarity. This method provided good results on an Alzheimer's disease related corpus with a precision of 73%.

RAVEL: retrieval and visualization in ELectronic health records.

Because of the ever-increasing amount of information in patients' EHRs, healthcare professionals may face difficulties for making diagnoses and/or therapeutic decisions. Moreover, patients may misunderstand their health status. These medical practitioners need effective tools to locate in real time relevant elements within the patients' EHR and visualize them according to synthetic and intuitive presentation models. The RAVEL project aims at achieving this goal by performing a high profile industrial research and development program on the EHR considering the following areas: (i) semantic indexing, (ii) information retrieval, and (iii) data visualization. The RAVEL project is expected to implement a generic, loosely coupled to data sources prototype so that it can be transposed into different university hospitals information systems.

Inclusive Digital Health.

OBJECTIVES: To introduce the 2022 International Medical Informatics Association (IMIA) Yearbook by the editors. METHODS: The editorial provides an introduction and overview to the 2022 IMIA Yearbook whose special topic is "Inclusive Digital Health: Addressing Equity, Literacy, and Bias for Resilient Health Systems". The special topic, survey papers, section editor synopses and some best papers are discussed. The sections' changes in the Yearbook Editorial Committee are also described. RESULTS: As shown in the previous edition, health informatics in the context of a global pandemic has led to the development of ways to collect, standardize, disseminate and reuse data worldwide. The Corona Virus Disease 2019 (COVID-19) pandemic has demonstrated the need for timely, reliable, open, and globally available information to support decision making. It has also highlighted the need to address social inequities and disparities in access to care across communities. This edition of the Yearbook acknowledges the fact that much work has been done to study health equity in recent years in the various fields of health informatics research. CONCLUSION: There is a strong desire to better consider disparities between populations to avoid biases being induced in Artificial Intelligence algorithms in particular. Telemedicine and m-health must be more inclusive for people with disabilities or living in isolated geographical areas.

Data Element Mapping in the Data Privacy Era.

Secondary use of health data is made difficult in part because of large semantic heterogeneity. Many efforts are being made to align local terminologies with international standards. With increasing concerns about data privacy, we focused here on the use of machine learning methods to align biological data elements using aggregated features that could be shared as open data. A 3-step methodology (features engineering, blocking strategy and supervised learning) was proposed. The first results, although modest, are encouraging for the future development of this approach.

Indexing Imaging Reports for Data Sharing: A Study of Mapping Using RadLex Playbook and LOINC.

New use cases and the need for quality control and imaging data sharing in health studies require the capacity to align them to reference terminologies. We are interested in mapping the local terminology used at our center to describe imaging procedures to reference terminologies for imaging procedures (RadLex Playbook and LOINC/RSNA Radiology Playbook). We performed a manual mapping of the 200 most frequent imaging report titles at our center (i.e. 73.2% of all imaging exams). The mapping method was based only on information explicitly stated in the titles. The results showed 57.5% and 68.8% of exact mapping to the RadLex and LOINC/RSNA Radiology Playbooks, respectively. We identified the reasons for the mapping failure and analyzed the issues encountered.

Evaluating the Relevance of Virtual Drugs.

Information about drugs is numerous and varied, and many drugs can share the same information. Grouping drugs that have common characteristics can be useful to avoid redundancy and facilitate interoperability. Our work focused on the evaluation of the relevance of classes allowing this type of grouping: the "Virtual Drug". Thus, in this paper, we describe the process of creating this class from the data of the French Public Drug Database, which is then evaluated against the codes of the Anatomical Therapeutic Chemical classification associated with the drugs. Our evaluation showed that 99.55% of the "Virtual Drug" classes have a good intra-class consistency.

Aligning an interface terminology to the Logical Observation Identifiers Names and Codes (LOINC®).

OBJECTIVE: Our study consists in aligning the interface terminology of the Bordeaux university hospital (TLAB) to the Logical Observation Identifiers Names and Codes (LOINC). The objective was to facilitate the shared and integrated use of biological results with other health information systems. MATERIALS AND METHODS: We used an innovative approach based on a decomposition and re-composition of LOINC concepts according to the transversal relations that may be described between LOINC concepts and their definitional attributes. TLAB entities were first anchored to LOINC attributes and then aligned to LOINC concepts through the appropriate combination of definitional attributes. Finally, using laboratory results of the Bordeaux data-warehouse, an instance-based filtering process has been applied. RESULTS: We found a small overlap between the tokens constituting the labels of TLAB and LOINC. However, the TLAB entities have been easily aligned to LOINC attributes. Thus, 99.8% of TLAB entities have been related to a LOINC analyte and 61.0% to a LOINC system. A total of 55.4% of used TLAB entities in the hospital data-warehouse have been mapped to LOINC concepts. We performed a manual evaluation of all 1-1 mappings between TLAB entities and LOINC concepts and obtained a precision of 0.59. CONCLUSION: We aligned TLAB and LOINC with reasonable performances, given the poor quality of TLAB labels. In terms of interoperability, the alignment of interface terminologies with LOINC could be improved through a more formal LOINC structure. This would allow queries on LOINC attributes rather than on LOINC concepts only.

Health Data, Information, and Knowledge Sharing for Addressing the COVID-19.

OBJECTIVES: To introduce the 2021 International Medical Informatics Association (IMIA) Yearbook by the editors. METHODS: The editorial provides an introduction and overview to the 2021 IMIA Yearbook whose special topic is "Managing Pandemics with Health Informatics - Successes and Challenges". The Special Topic, the keynote paper, and survey papers are discussed. The IMIA President's statement and the IMIA dialogue with the World Health Organization are introduced. The sections' changes in the Yearbook Editorial Committee are also described. RESULTS: Health informatics, in the context of a global pandemic, led to the development of ways to collect, standardize, disseminate and reuse data worldwide: public health data but also information from social networks and scientific literature. Fact checking methods were mostly based on artificial intelligence and natural language processing. The pandemic also introduced new challenges for telehealth support in times of critical response. Next generation sequencing in bioinformatics helped in decoding the sequence of the virus and the development of messenger ribonucleic acid (mRNA) vaccines. CONCLUSIONS: The Corona Virus Disease 2019 (COVID-19) pandemic shows the need for timely, reliable, open, and globally available information to support decision making and efficiently control outbreaks. Applying Findable, Accessible, Interoperable, and Reusable (FAIR) requirements for data is a key success factor while challenging ethical issues have to be considered.

Visualizing Food-Drug Interactions in the Thériaque Database.

This paper presents a prototype for the visualization of food-drug interactions implemented in the MIAM project, whose objective is to develop methods for the extraction and representation of these interactions and to make them available in the Thériaque database. The prototype provides users with a graphical visualization showing the hierarchies of drugs and foods in front of each other and the links between them representing the existing interactions as well as additional details about them, including the number of articles reporting the interaction. The prototype is interactive in the following ways: hierarchies can be easily folded and unfolded, a filter can be applied to view only certain types of interactions, and details about a given interaction are displayed when the mouse is moved over the corresponding link. Future work includes proposing a version more suitable for non-health professional users and the representation of the food hierarchy based on a reference classification.

Development of a fixed module repertoire for the analysis and interpretation of blood transcriptome data.

As the capacity for generating large-scale molecular profiling data continues to grow, the ability to extract meaningful biological knowledge from it remains a limitation. Here, we describe the development of a new fixed repertoire of transcriptional modules, BloodGen3, that is designed to serve as a stable reusable framework for the analysis and interpretation of blood transcriptome data. The construction of this repertoire is based on co-clustering patterns observed across sixteen immunological and physiological states encompassing 985 blood transcriptome profiles. Interpretation is supported by customized resources, including module-level analysis workflows, fingerprint grid plot visualizations, interactive web applications and an extensive annotation framework comprising functional profiling reports and reference transcriptional profiles. Taken together, this well-characterized and well-supported transcriptional module repertoire can be employed for the interpretation and benchmarking of blood transcriptome profiles within and across patient cohorts. Blood transcriptome fingerprints for the 16 reference cohorts can be accessed interactively via:  https://drinchai.shinyapps.io/BloodGen3Module/ .

Design and evaluation of a semantic approach for the homogeneous identification of events in eight patient databases: a contribution to the European EU-ADR project.

The overall objective of the EU-ADR project is the design, development, and validation of a computerised system that exploits data from electronic health records and biomedical databases for the early detection of adverse drug reactions. Eight different databases, containing health records of more than 30 million European citizens, are involved in the project. Unique queries cannot be performed across different databases because of their heterogeneity: Medical record and Claims databases, four different terminologies for coding diagnoses, and two languages for the information described in free text. The aim of our study was to provide database owners with a common basis for the construction of their queries. Using the UMLS, we provided a list of medical concepts, with their corresponding terms and codes in the four terminologies, which should be considered to retrieve the relevant information for the events of interest from the databases.

Building a Graph Representation of LOINC® to Facilitate its Alignment to French Terminologies.

The aim of our study was to create a graph model for the description of LOINC® concepts. The main objective of the constructed structure is to facilitate the alignment of French local terminologies to LOINC. The process consisted of automatically incorporating the naming rules of LOINC labels, based on punctuation. We implemented these rules and applied them to the French variants of LOINC and then created attributes and concepts described with synonymous labels. When comparing the created attributes to the stated ones, the multiple mappings led to the identification of errors that must be corrected for improving the translation quality. These mappings are consecutive to semantic errors generated during the translation process. They mainly corresponded to misinterpretations of LOINC concepts and/or LOINC attributes.

GSAn: an alternative to enrichment analysis for annotating gene sets.

The revolution in new sequencing technologies is greatly leading to new understandings of the relations between genotype and phenotype. To interpret and analyze data that are grouped according to a phenotype of interest, methods based on statistical enrichment became a standard in biology. However, these methods synthesize the biological information by a priori selecting the over-represented terms and may suffer from focusing on the most studied genes that represent a limited coverage of annotated genes within a gene set. Semantic similarity measures have shown great results within the pairwise gene comparison by making advantage of the underlying structure of the Gene Ontology. We developed GSAn, a novel gene set annotation method that uses semantic similarity measures to synthesize a priori Gene Ontology annotation terms. The originality of our approach is to identify the best compromise between the number of retained annotation terms that has to be drastically reduced and the number of related genes that has to be as large as possible. Moreover, GSAn offers interactive visualization facilities dedicated to the multi-scale analysis of gene set annotations. Compared to enrichment analysis tools, GSAn has shown excellent results in terms of maximizing the gene coverage while minimizing the number of terms.

Analyzing polysemous concepts from a clinical perspective: application to auditing concept categorization in the UMLS.

OBJECTIVES: Polysemy is a frequent issue in biomedical terminologies. In the Unified Medical Language System (UMLS), polysemous terms are either represented as several independent concepts, or clustered into a single, multiply-categorized concept. The objective of this study is to analyze polysemous concepts in the UMLS through their categorization and hierarchical relations for auditing purposes. METHODS: We used the association of a concept with multiple Semantic Groups (SGs) as a surrogate for polysemy. We first extracted multi-SG (MSG) concepts from the UMLS Metathesaurus and characterized them in terms of the combinations of SGs with which they are associated. We then clustered MSG concepts in order to identify major types of polysemy. We also analyzed the inheritance of SGs in MSG concepts. Finally, we manually reviewed the categorization of the MSG concepts for auditing purposes. RESULTS: The 1208 MSG concepts in the Metathesaurus are associated with 30 distinct pairs of SGs. We created 75 semantically homogeneous clusters of MSG concepts, and 276 MSG concepts could not be clustered for lack of hierarchical relations. The clusters were characterized by the most frequent pairs of semantic types of their constituent MSG concepts. MSG concepts exhibit limited semantic compatibility with their parent and child concepts. A large majority of MSG concepts (92%) are adequately categorized. Examples of miscategorized concepts are presented. CONCLUSION: This work is a systematic analysis and manual review of all concepts categorized by multiple SGs in the UMLS. The correctly-categorized MSG concepts do reflect polysemy in the UMLS Metathesaurus. The analysis of inheritance of SGs proved useful for auditing concept categorization in the UMLS.