Clinical Research Informatics: Contributions from 2016
11 September 2017 (online)
Objectives: To summarize key contributions to current research in the field of Clinical Research Informatics (CRI) and to select the best papers published in 2016.
Methods: A bibliographic search using a combination of MeSH and free terms on CRI was performed using PubMed, followed by a double-blind review in order to select a list of candidate best papers to be then peer-reviewed by external reviewers. A consensus meeting between the two section editors and the editorial team was organized to finally conclude on the selection of best papers.
Results: Among the 452 papers published in 2016 in the various areas of CRI and returned by the query, the full review process selected four best papers. The authors of the first paper utilized a comprehensive representation of the patient medical record and semi-automatically labeled training sets to create phenotype models via a machine learning process. The second selected paper describes an open source tool chain securely connecting ResearchKit compatible applications (Apps) to the widely-used clinical research infrastructure Informatics for Integrating Biology and the Bedside (i2b2). The third selected paper describes the FAIR Guiding Principles for scientific data management and stewardship. The fourth selected paper focuses on the evaluation of the risk of privacy breaches in releasing genomics datasets.
Conclusions: A major trend in the 2016 publications is the variety of research on “real-world data” - healthcare-generated data, person health data, and patient-reported outcomes -highlighting the opportunities provided by new machine learning techniques as well as new potential risks of privacy breaches.
Clinical Research Informatics
Agarwal V, Podchiyska T, Banda JM, Goel V, Leung TI, Minty EP, Sweeney TE, Gyang E, Shah NH. Learning statistical models of phenotypes using noisy labeled training data. J Am Med Inform Assoc 2016;23(6):1166-73 https://academic.oup.com/jamia/article-lookup/doi/10.1093/jamia/ocw028
Harmanci A, Gerstein M. Quantification of private information leakage from phenotype-genotype data: linking attacks. Nat Methods 2016;13(3):251-6 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834871/
Pfiffner PB, Pinyol I, Natter MD, Mandl KD. C3-PRO: Connecting ResearchKit to the Health System Using i2b2 and FHIR. PloS One 2016;11(3):e0152722 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816293/
Wilkinson MD, Dumontier M, Aalbersberg IJJ, Appleton G, Axton M, Baak A, Blomberg N, Boiten JW, da Silva Santos LB, Bourne PE, Bouwman J, Brookes AJ, Clark T, Crosas M, Dillo I, Dumon O, Edmunds S, Evelo CT, Finkers R, Gonzalez-Beltran A, Gray AJ, Groth P, Goble C, Grethe JS, Heringa J, ‘t Hoen PA, Hooft R, Kuhn T, Kok R, Kok J, Lusher SJ, Martone ME, Mons A, Packer AL, Persson B, Rocca-Serra P, Roos M, van Schaik R, Sansone SA, Schultes E, Sengstag T, Slater T, Strawn G, Swertz MA, Thompson M, van der Lei J, van Mulligen E, Velterop J, Waagmeester A, Wittenburg P, Wolstencroft K, Zhao J, Mons B. The FAIR Guiding Principles for scientific data management and stewardship. Sci Data 2016;3:160018 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792175/
Springer DB, Tarassenko L, Clifford GD. Logistic regression-HSMM-based heart sound segmentation. IEEE Trans Biomed Eng 2016 Apr;63(4):822-32