Beyond health records: Deep learning enhances disease diagnosis via image-based phenotyping

Study: Deep learning-based phenotyping of medical images improves power for gene discovery of complex disease. The differential diagnoses can vary based on specialist or non-specialist clinicians, and electronic health records can also differ according to assessments of disease severity and how the patients are billed. The Kellgren-Lawrence grading system was then used to perform a binary classification for automated phenotyping of knee osteoarthritis cases using radiography. The minimum joint space width between the tibia and the femur was then measured to assess and determine the severity of knee osteoarthritis quantitatively. ConclusionsOverall, the study provided proof-of-concept for the use of large-scale biobank data and a quantitative phenotyping method to directly measure and assess disease severity in a disease with complex phenotypes.