genoDraw: A web tool for developing pedigree diagrams using the standardized human pedigree nomenclature integrated with biomedical vocabularies

García Giordano, Luciano and Paraiso Medina, Sergio and Alonso Calvo, Raúl and Fernández Martínez, Francisco Javier and Maojo Garcia, Victor Manuel (2019). genoDraw: A web tool for developing pedigree diagrams using the standardized human pedigree nomenclature integrated with biomedical vocabularies. In: "AMIA 2019, American Medical Informatics Association Annual Symposium", 16-20 Nov 2019, Washington, Estados Unidos. pp. 457-465.

Description

Title: genoDraw: A web tool for developing pedigree diagrams using the standardized human pedigree nomenclature integrated with biomedical vocabularies
Author/s:
  • García Giordano, Luciano
  • Paraiso Medina, Sergio
  • Alonso Calvo, Raúl
  • Fernández Martínez, Francisco Javier
  • Maojo Garcia, Victor Manuel
Item Type: Presentation at Congress or Conference (Article)
Event Title: AMIA 2019, American Medical Informatics Association Annual Symposium
Event Dates: 16-20 Nov 2019
Event Location: Washington, Estados Unidos
Title of Book: AMIA Annual Symposium Proceedings
Date: 2019
Volume: 2019
Subjects:
Faculty: E.T.S. de Ingenieros Informáticos (UPM)
Department: Inteligencia Artificial
Creative Commons Licenses: Recognition - No derivative works - Non commercial

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Abstract

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.

Funding Projects

TypeCodeAcronymLeaderTitle
Government of SpainPI17/01561CICLOGENUniversidad Politécnica de MadridProyecto colaborativo de integración de datos genómicos

More information

Item ID: 65282
DC Identifier: http://oa.upm.es/65282/
OAI Identifier: oai:oa.upm.es:65282
Official URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153108/pdf/3200990.pdf
Deposited by: Memoria Investigacion
Deposited on: 06 Nov 2020 11:49
Last Modified: 06 Nov 2020 11:49
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