IP: Dr. Carlos Flores Infante

Resumen del proyecto: The aim of UDIGEN is framed in the genomic transition of genetic tests and will focus in the development of tools that will lead to a platform of integrated genetic analysis based on NGS, preferentially based on exome sequencing. This will result from applying and refining the methodology in the study of exomes and whole genomes from Canarian patients with diseases with a suspected genetic cause. The resulting products from the completion of this project will be directed towards the elimination of bottlenecks, shortening the times until a diagnosis is reached and improve cost-efficiency in the genetic diagnosis based on genomic approximations. We will vertebrate the activities of UDIGEN around three substudies: a) a retrospective validation study in patients with an orthogonal genetic diagnosis, b) a population study in reference samples, c) a study of patients with diseases with evidence of a genetic cause.

Entidad financiadora: Ministerio de Ciencia, Innovación y Universidades