Automatic tool for mass sequencing data processing for variant extraction (SNPs), visualization, filtering and annotation

The CRIBOMICS project was born as a collaboration between Vicomtech and a company specialized in the molecular diagnosis of genetic diseases, seeking to cover the needs associated with the automation of the analysis of genomic variants, a process previously linked to long waiting times and manual work, due to the large number of variants that are obtained in a massive sequencing study that could not be analyzed automatically.

The main objective of this project is to develop an intuitive automatic tool that allows researchers to process massive sequencing data for the extraction of variants (SNPs), their visualization, filtering and annotation. This seeks to improve the workflow, automate the process and thus optimize execution times and obtain results. The tool automatically feeds the information on these variants stored in various databases of the literature, so that users of the tool (laboratory technicians, geneticists, etc.) can draw conclusions with more scientific soundness.

All the technological development associated with the project has been in the hands of a group of researchers at Vicomtech, advised at all times by specialists.

After the success of the first stage, the project is in a new phase of development, in this case focused on the analysis of another type of very common genetic variant, variations in the number of copies (CNV). This information has recently begun to be exploited since, until now, it was not possible to extract these variants from mass sequencing data.