Jie Liu has received the American Medical Informatics Association's Marco Ramoni Prize for the paper, New Genetic Variants Improve Personalized Breast Cancer Diagnosis. .Jie is a PhD candidate (CS) working with BMI faculty members Elizabeth Burnside and David Page, as well as with other collaborators from Marshfield Clinic, UW-Madison, and Essentia Institute of Rural Health. Peissig is a recent graduate of the ICTR-based Graduate Program in Clinical Investigation.
The Marco Ramoni Distinguished Paper Award for Translational Bioinformatics is presented annually at the AMIA Summit on Translational Bioinformatics to a first author of the paper at the meeting that best exemplifies the spirit and scholarship of Marco Ramoni in applying informatics methods to the elucidation of basic molecular biology processes that are relevant to the conquest of human disease. Recent large-scale genome-wide association studies (GWAS) have identified a number of new genetic variants associated with breast cancer. However, the degree to which these genetic variants improve breast cancer diagnosis in concert with mammography remains unknown. Using de-identified data available through the Marshfield Clinic and the Wisconsin Genomics Initiative, this paper presents the results of a case-control study of collected mammography features and 77 genetic variants which reflect the state of the art GWAS findings on breast cancer. The paper demonstrates that the incorporation of the genetic variants significantly improved breast cancer diagnosis based on mammographic findings.
The paper appears as:
New Genetic Variants Improve Personalized Breast Cancer Diagnosis. Jie Liu, David Page, Peggy Peissig, Catherine McCarty, Adedayo A. Onitilo, Amy Trentham-Dietz and Elizabeth Burnside. AMIA Summit on Translational Bioinformatics (AMIA-TBI).