December 30, 2025

Joan Antoni Martorell presents his research at the XIII Jornada de Bioinformàtica i Genòmica

Joan Antoni Martorell presented research on the prevalence of stop loss mutations in cancer. The mutations were obtained from more than 20,000 patient tumor samples and several recurrently mutated genes were identified.

The XIII Jornada de Bioinformàtica i Genòmica took place at the Faculty of Biosciences of the Universitat Autonòma de Barcelona on 18-19 December. Joan Antoni Martorell presented the most recent results of the group on the prevalence of stop loss mutations in cancer. These mutations generate protein extensions, which can alter the function of the protein or inactivate it. The analysis included mutation data from more than 20,000 patient tumor samples. Several recurrently mutated genes were identified, suggesting that some of the mutations might have been positively selected for their tumor-promoting effects.