Publication Details
Overview
 
 
Dipankar Sengupta, Didier Croes, Mary-Louise Bonduelle, Ann Nowe, Sonia Van Dooren
 

Unpublished contribution to conference

Abstract 

Project BRiDGEIris (http://bridgeiris.ibsquare.be/) aimed to develop a big data platform that can be used for sharing genomic and clinical data, and support discovery studies in clinical genomics. A part of this goal was attained by the proposal and development of CliniPhenome, having a generalized clinical schema design along with a merged ontology that supports cross-referencing. Also, introduction of the controlled vocabulary and data structure answers to the prevalent problem of plain text storage in the existing clinical databases, causing impediment during data analysis. CliniPhenome is a web based application coupled to a database, developed primarily for the collection of data for patient's being analyzed for Cardiac Arrhythmia Syndromes and Prenatal analysis, but also supports for other diseases. A user needs to be registered in CliniPhenome to access its utilities. There are three user types in CliniPhenome based on the {"}Label Based Access{"}, and defined as per the Health Level 7 (HL7) Healthcare Privacy Guidelines. Its application interface provides an interactive platform with varied usage features depending on the user type, like, a privileged user, can insert data along with clinical measures (obtained from varied diagnostic processes) or can access the clinical history of a patient. Furthermore, based on the provided observations, a patient can be annotated against the combination of phenotype ontology's - HPO, OMIM, Orphanet; and clinical ontology - SNOMED. Another key component of CliniPhenome is the data migration utility, that supports exchange of de-identified information, among the participating hospital/centres in an XML/JSON file structure. Furthermore, there are API's that integrates it with HIGHLANDER (Genomic db) database and analytical tools like DiGeST (gene/variant ranking). CliniPhenome (http://bridgeiris.ulb.ac.be/cliniphenome/) has been developed in PHP (CodeIgniter Web MVC framework), MySQL (version 5.5) and runs on an Apache server.

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