PhenoDB, an Interactive Online Phenotype Analytical Tool
JHU REF: [C12798]
Invention Novelty: A novel interactive online software that provides an in-depth analysis of individual case phenotypic, genomic information, and clinical test results within a comprehensive easy to use, searchable database.
Value Proposition: There is significant growth in the development of software and database management for genetic diseases for the purpose of improving treatment for human diseases. The major hurdle remains in the efficient organization, analysis and interpretation of the data. PhenoDB is an interactive software analytical tool that allows users to input and search clinically significant phenotypical information on individuals and families affected by a wide variety of disorders and enables analysis through independent reviewers. Other advantages of this technology include:
· Hierarchical disease analysis by organ anatomy, supported with images, and clinical test results
· Sub-categories based on Online Mendelian Inheritance in Man (OMIM) clinical synopses and database.
· Optional integration into Electronic Health Records
Technical Details: Johns Hopkins researchers have created a novel interactive software tool called PhenoDB to store, analyze, and interpret phenotypic data for de-identified individuals and families. This will optimize results from whole genome sequencing and track disease generational progression. It includes a fully searchable database that can be incorporated into electronic health record systems to enhance clinical practice and treatment recommendations for a given disorder. With its open-source structure, PhenoDB allows free-text entry of up-to-date clinical test results, images, and outcomes as well as offers categorical organization based on OMIM. Overall PhenoDB will provide a novel comprehensive analysis and context for findings from the Human Phenome Project.
Looking for Partners: To develop and commercialize the technology as an online software tool for storing and analyzing Human Phenome data.
Stage of Development: Pre-Clinical
Data Availability: Under CDA/NDA
Patent Status: Provisional
Publication(s)/Associated Cases: Hum Mutat 34:566–571, 2013 , Hum Mutat 34:661–666, 2013
