Pharmacogenomic variant analysis using next-generation sequencing data
Data
Acronym: PHARMA-CAN
Reference: ProID2021010073
Partners: Instituto Tecnológico y de Energías Renovables (ITER) and Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC)
Duration: 01 March 2021 – 04 April 2023
Budget: 38,990.15€
Co-financing: FEDER/Government of the Canary Island
Call for Subsidies for the implementation of R&D projects by research organisations and companies in the priority areas of the Canary Islands Smart Specialisation Strategy (RIS-3). Co-financed by the Canary Islands FEDER Operational Programme 2014-2020.
Project overview
El objetivo general del proyecto PHARMA-CAN es contribuir a la mejora en la prescripción de fármacos considerando los polimorfismos farmacogenéticos presentes en la población canaria mediante el uso de la secuenciación del exoma completo, con el fin de reducir la toxicidad y los efectos adversos del fármaco.
For this purpose, the variation in the main genes and variants of interest collected in public pharmacogenetic databases will be studied in order to determine the variation, as well as the frequency of the existing variants in the population under study and to modify, if necessary, the design of exome capture to allow simultaneous study with genetic diagnosis.
PHARMA-CAN develops its activities in coordination with the consortium formed by the Canary Islands Health Research Institute Foundation (FIISC) and ITER. On the one hand, ITER is responsible for the development of the genomics protocols and the deployment and maintenance of all the elements of the technological tool. On the other hand, FIISC is responsible for providing its knowledge in the field of the application of genomics in health and for developing the analyses necessary to carry out the comparisons, refining its own database, as well as the clinical perspective of the project.
The results of this project will allow the automated extraction of variants of pharmacogenetic interest from the exome sequencing data, with which we will be able to contribute to the improvement of drug prescription, enhancing the focus of Personalised Medicine in the general population.
In the PHARMA-CAN project, whole exome sequencing will be performed using ITER’s next-generation massive DNA sequencing platforms and supercomputing infrastructures.
