Formal Medical Knowledge Representation Supports Deep Learning Algorithms, Bioinformatics Pipelines, Genomics Data Analysis, and Big Data Processes

Yearb Med Inform. 2019 Aug;28(1):152-155. doi: 10.1055/s-0039-1677933. Epub 2019 Aug 16.


Objective: To select, present, and summarize the best papers published in 2018 in the field of Knowledge Representation and Management (KRM).

Methods: A comprehensive and standardized review of the medical informatics literature was performed to select the most interesting papers published in 2018 in KRM, based on PubMed and ISI Web Of Knowledge queries.

Results: Four best papers were selected among the 962 publications retrieved following the Yearbook review process. The research areas in 2018 were mainly related to the ontology-based data integration for phenotype-genotype association mining, the design of ontologies and their application, and the semantic annotation of clinical texts.

Conclusion: In the KRM selection for 2018, research on semantic representations demonstrated their added value for enhanced deep learning approaches in text mining and for designing novel bioinformatics pipelines based on graph databases. In addition, the ontology structure can enrich the analyses of whole genome expression data. Finally, semantic representations demonstrated promising results to process phenotypic big data.

Publication types

  • Review

MeSH terms

  • Artificial Intelligence*
  • Big Data
  • Biological Ontologies*
  • Computational Biology
  • Data Analysis
  • Data Mining*
  • Deep Learning*
  • Genetic Association Studies*
  • Genomics
  • Knowledge Management
  • Semantics