Dr Xavier de la Cruz, head of the Translational Bioinformatics group at Vall d'Hebron Institute of Research (VHIR), and researchers of the same group, Casandra Riera and Natalia Padilla, gave the course "Identification and analysis of mutations in massive sequencing projects (exomes and panels) in biomedicine: a practical vision", at the Centro de Diagnóstico de Enfermedades Metabólicas (CEDEM) in Madrid and the Instituto de Investigación Sanitaria de Aragón, in Zaragoza (IIS), last January and December.The course will be offered in the coming the months at VHIR and it is addressed to professionals interested in the application of sequencing in a biomedical environment. The program is divided in two key aspects: the quality control of the sequencing experiment and its interpretation. Firstly, they analyze in depth the sequencing process in exomes and panels, identifying possible sources of errors, and the quality controls to correct them. And secondly, they review the methods for the characterization of the pathogenesis of the variants of the proteins identified, with a clear explanation.The 3-hour course is focused in the applications and is based on the experience of the Translational Bioinformatics group in the field of research and dissemination. The training is sponsored by the network "Comprehension, prediction and validation of the phenotype of pathological mutations: transforming the basic results in diagnostic tools" of the Spanish ministry of economy and competitiveness.