We are interested in the annotation and evaluation of whole genomes, with an emphasis on protein function analysis. In this field, we have developed and published bioinformatics tools, which are available for public use from our group's website (http://www.bioinfocabd.upo.es
). One of our main interests is the analysis of proteins involved in human diseases, including infectious diseases and proteins involved in development, by means of sequence alignments, structural analysis and molecular phylogenies. In recent years, due to the large availability of whole genomes, we are performing pangenome analyses, especially of bacterial genomes, to search for genes related to specific functions, such as their involvement in endogenous CRISPR-Cas systems or intercellular relationships such as those generated in the biofilms, using machine learning. Related to this topic, we are also interested in the search for new Cas proteins from CRISPR-Cas systems for use in biotechnology.
Working hypothesis on the acquisition of CRISPR-Cas systems proposed in Rubio et al., Sci. Adv. (2023).
In the field of rare diseases, we are particularly interested in Spinal Muscular Atrophy, with which we are working on the search for modifier genes and drugs that increase the amount of the SMN protein, the lack of which causes the disease.