CPS: A Collaborative Phenotype System

Abstract

Purpose: : To develop a collaborative system to acquire and share detailed phenotypic and molecular data on ocular disorders to facilitate the discovery of novel phenotypic features and the design of future phenotype-driven experiments.

Methods: : We have designed and developed a web-based repository to manage the detailed phenotypic, clinical and molecular data for use in research. The Collaborative Phenotype System (CPS) is a distributed network of data repositories, web-interfaces and analytic routines. Strongly typed phenotypic data allows for the ability to intelligently query and view specific phenotypic attributes. Phenotypic data is collected via forms that are clinician-specified interfaces resembling paper forms commonly used in clinical settings. A custom-made high-throughput 35mm slide scanner is used to digitize clinical photographs for AMD patients.

Results: : We have used CPS to capture demographic information, detailed phenotypic and molecular data for 800 individuals with AMD. This is a valuable resource for ongoing clinical and genetic studies including association studies, mutation screening and discovery of novel phenotypes. We have also collected diagnostic color fundus and fluorescein angiogram images, detailed phenotypic data and grading information from expert reviewers from more than 500 AMD patients within the CPS system.

Conclusions: : Preliminary studies indicate that the utilization of phenotype management systems makes the acquisition of structured phenotypic data accessible and enables the discovery of novel phenotypes and their genetic correlates. CPS is a data system allowing clinical researchers to ask questions that span demographic, phenotypic, image and molecular data. Analytic procedures are currently being integrated to better utilize this data. These analyses include the identification of genotype-phenotype associations and the identification of sub-populations with a specified genotypes and/or phenotypes.

Keywords: genetics • age-related macular degeneration • neovascularization