Automated Discovery and Quantification of Image-Based Complex Phenotypes: A Twin Study of Drusen Phenotypes in Age-Related Macular Degeneration

摘要

Purpose.Determining the relationships between phenotype and genotype of many disorders can improve clinical diagnoses, identify disease mechanisms, and enhance therapy. Most genetic disorders result from interaction of many genes that obscure the discovery of such relationships. The hypothesis for this study was that image analysis has the potential to enable formalized discovery of new visible phenotypes. It was tested in twins affected with age-related macular degeneration (AMD).