02250nas a2200253   4500008004100000022001400041245013700055210006900192260001600261490000700277520134400284100002701628700002001655700002401675700002601699700001801725700001801743700002101761700001901782700002801801700002001829700002601849856012101875       2023                        eng d  a1999-492300aA Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.0 aComprehensive Analysis of 21 Actionable Pharmacogenes in the Spa  c2023 Apr 190 v153 a<p>The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part due to a lack of ethnic PGx information. We analysed genetic data from 3006 Spanish individuals obtained by different high-throughput (HT) techniques. Allele frequencies were determined in our population for the main 21 actionable PGx genes associated with therapeutical changes. We found that 98% of the Spanish population harbours at least one allele associated with a therapeutical change and, thus, there would be a need for a therapeutical change in a mean of 3.31 of the 64 associated drugs. We also identified 326 putative deleterious variants that were not previously related with PGx in 18 out of the 21 main PGx genes evaluated and a total of 7122 putative deleterious variants for the 1045 PGx genes described. Additionally, we performed a comparison of the main HT diagnostic techniques, revealing that after whole genome sequencing, genotyping with the PGx HT array is the most suitable solution for PGx diagnostics. Finally, all this information was integrated in the Collaborative Spanish Variant Server to be available to and updated by the scientific community.</p>1 aNúñez-Torres, Rocío1 aPita, Guillermo1 aPeña-Chilet, Maria1 aLópez-López, Daniel1 aZamora, Jorge1 aRoldán, Gema1 aHerráez, Belén1 aAlvarez, Nuria1 aAlonso, María, Rosario1 aDopazo, Joaquin1 aGonzález-Neira, Anna  uhttps://www.clinbioinfosspa.es/content/comprehensive-analysis-21-actionable-pharmacogenes-spanish-population-genetic