Intersecting Pathways in Bioinformatics and Translational Informatics: A One Health Perspective on Key Contributions and Future Directions.

Abstract

Objectives: To identify and summarize the top bioinformatics and translational informatics (BTI) papers published in 2022 for the International Medical Informatics Association (IMIA) Yearbook 2023.

Methods: We conducted a comprehensive literature search to identify the top BTI papers, resulting in a set of ten candidate papers. The candidates were reviewed by the section co-editors and external reviewers to select the top three papers from 2022.

Results: From a total of 558 papers, we identified a final candidate list of ten BTI papers for peer-review. These papers apply new statistical frameworks and experimental designs to better capture individual variability in disease and incorporate data that captures differences between single cells and across environmental exposures. In addition, they highlight the importance of model generalization across diverse cohorts and scalability to large medical centers.

Conclusions: We note several important trends in the candidate top BTI papers this year, including a continued focus on developing accurate and scalable computational models to predict disease risk across diverse cohorts and new strategies to capture the molecular heterogeneity of disease.