Description
The integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists with an integrated environment with potential positive impact on their current practice. This article presents a web tool (genoDraw) that provides clinical practitioners with the ability to create, maintain and visualize patients’ and their families’ information in the form of pedigree diagrams. genoDraw implements a graph-based three-step process for generating diagrams according to a de facto standard in the area and clinical terminologies. It also complies with five characteristics identified as indispensable for the next-generation of pedigree drawing software: comprehensiveness, data-drivenness, automation, interactivity and compatibility with biomedical vocabularies. The platform was implemented and tested, confirming its potential interest to clinical routine.
Learning Objective: After participating in this session, the learner should be better able to understand the new solution to manage human pedigrees, genoDraw, based on the structure representation of the Standardized Human Pedigree Nomenclature and the interaction with well-established biomedical terminologies.
Authors:
Luciano Garcia-Giordano (Presenter)
Universidad Politécnica de Madrid
Sergio Paraiso-Medina, Universidad Politécnica de Madrid
Raul Alonso-Calvo, Universidad Politécnica de Madrid
Francisco Javier Fernández-Martínez, 12 de Octubre Hospital
Victor Maojo, Universidad Politécnica de Madrid
Presentation Materials: