September 2024 – November 2024
Over the last few months, we have been performing validations of the genetic variants identified through the analysis and integration of the genomic and transcriptomic data. This sort of data validation is needed to ensure that the variants detected at a genomic and transcriptomic level through high-throughput techniques are real and are not a sequencing artefact.
In regard to the microbiome study of our patients, Toni Gabaldón and Olfat Khannous from the Barcelona Biomedical Research Institute and the Barcelona Supercomputing Center (IRB-BSC) needed control patients in order to perform significant comparative analysis with the patients from our study. For this, the DNA of 20 patients with late-onset colorectal cancer was sequenced, of which we already have the results. With this new data, the study of the microbiome and the comparative analysis has begun at the IRB-BSC.
The results of the metabolome study, carried out jointly with the Omic Sciences Centre (COS) of the Eurecat technology center, reveal the metabolites present in each patient individually and their complete lipidic profiles. With this data we have begun to write a scientific article reporting on this characterization.
In our last memorandum we reported that we had started the process of publishing a scientific article where we explained the case of the complex rearrangement of MLH1 and its contiguous gene, LRRFIP2. We have finally received the reviewers' comments, and we are making the appropriate amendments to the manuscript according to their suggestions so that the manuscript can be resubmitted at the end of this year.
