2021 Bioinformatics and Translational Informatics Best Papers.

Objectives: To identify and summarize the top bioinformatics and translational informatics papers published in 2021 for the IMIA Yearbook.

Methods: We performed a broad literature search to retrieve Bioinformatics and Translational Informatics (BTI) papers and coupled this with a series of editorial and peer reviews to identity the top papers in the area.

Results: We identified a final candidate list of 15 BTI papers for peer-review; from these candidates, the top three papers were chosen to highlight in this synopsis. These papers expand the integration of multi-omics data with electronic health records and use advanced machine learning approaches to tailor models to individual patients. In addition, our honorable mention paper foreshadows the growing impact of BTI research on precision medicine through the continued development of large clinical consortia.

Conclusion: In the top BTI papers this year, we observed several important trends, including the use of deep-learning approaches to analyse diverse data types, the development of integrative and web-accessible bioinformatics pipelines, and a continued focus on the power of individual genome sequencing for precision health.