SUMMARY

The Translational Bioinformatics group has developed its activities with two different goals: increase the applicability of bioinformatics tools and contribute to the diffusion of genomics among the VHIR community. For the first goal, we have reinforced our research line on the scoring of pathological mutations. More precisely, we have developed an original approach for the identification of causative mutations in Fabry (Riera et al., Proteins, 2014). In parallel, we have increased our collaborations with other groups inside and outside the VHIR, with the goal of benchmarking our new bioinformatics models. Finally, we have recently started to work as bioinformatics coordinators of the benchmarking of Illumina’s TruSight Tumour Panel.

Regarding the diffusion of genomics within the VHIR community, we have acted as scientific responsibles, and co-organizers, of the meeting “The impact of genomics in translational medicine: present view” (October, 2014). In addition, we have brought to the VHIR two top speakers in genomic diagnostics and epigenetics, Dr. Belén Pérez and  Dr. Marian Martínez, respectively. 

PUBLICATIONS