The AIRGEnomics project, which aims to develop an automated genomic analysis tool, has successfully completed the study carried out with real patient samples. This is an important milestone for the researchers who began working on this development nearly five years ago.
The AIRGenomics project emerged in the summer of 2019 when a Korean company contacted our researchers with a view to developing an automated genomic analysis tool. With a focus on the clinical diagnostics market, we began work to design a tool that would allow healthcare workers without bioinformatics knowledge to perform complex analyses in a simple and automated way, integrating all stages of the analysis process, from filtering raw lab data to interpreting clinically relevant variants.
After several months of development, our researchers continued the project on their own and developed the platform further, initially with their own funds and later with contributions from competitive projects such as the ICE, the Castilla y León Health Authority and the Carlos III Health Institute.
Today, the AIRGenomics platform has reached a full degree of maturity and is already capable of enabling clinical staff. with no knowledge of bioinformatics, to automatically analyse data from whole genome, whole exome, gene panels, trios/ inheritance analysis and somatic tumour samples, among others. All this in a self-contained and easily deployable solution that does not require specific computing infrastructure and can be integrated in existing hospital workflows.
The platform has artificial intelligence modules with various functions, but the built-in pathogenicity predictor, which allows a pathogenicity scale to be attributed to variants that are not currently classified, and the diagnostic support system, which allows to correlate the patient’s symptoms with their variants and possible associated syndromes.
All the development work has now been validated through a study with real patient samples under the supervision of the National Centre for Oncological Research and the Haematology Service of the University Hospital of Salamanca for the diagnosis of Hereditary Thrombocytopenias, with whom a pilot trial has been carried out.
The project has aroused great interest, to the point that we are currently close to signing a collaboration agreement with the HP company for the commercialisation of the platform.
