| Autor: |
García Giordano, Luciano, Paraiso Medina, Sergio, Alonso Calvo, Raul, Fernández Martínez, Francisco Javier, Maojo Garcia, Victor Manuel |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Libro de Comunicaciones, pósters y proyectos de innovación. XXII Congreso Nacional de Informática de la Salud | XXII Congreso Nacional de Informática de la Salud | 5-7 mar 2019 | Madrid, España |
| Popis: |
The need for integrating genomic data into daily clinical practice raises the demand for tools capable of representing individuals’ data and also their biological relationships with other individuals. In this work, we introduce genoDraw, a new platform for creating and managing pedigree diagrams following biomedical standards. The proposed work focuses in five critical aspects for the adoption of this platform in the clinical practice, namely: data-drivenness, automation, interactivity, comprehensiveness and compatibility with widely-adopted biomedical vocabularies for the annotation of traits and characteristics. We present a novel process for generating pedigree diagrams from individual data. This process generates pedigree diagrams that comply with the pedigree nomenclature used as a defacto standard in the area. We implemented the system as a web platform for ensuring complete compatibility. We also performed an evaluation process, which included usability tests, and the results show a promising adequacy for the usage in the clinical practice. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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