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Gül-Vahide Yilmaz and Yasmine Maassouli from the École d'Ingénieurs Généraliste du Numérique EFREI in Paris, completed a research stay at the BISITE Group where they investigated the DeepNGS project, a solution that automates the workflow of gene analysis and can help in diagnostic procedures.

In DeepNGS Next Generation Sequencing, genomic data analysis requires a standardized pipeline that will help clinicians and researchers to obtain explicit and complete information. It also allows to adapt it according to the specific needs of each type of analysis.

DeepNGS, has been developed by DCSc, in collaboration with AIR Institue, Grupo BISITE and the IoT Digital Innovation Hub (DIGIS3 Partner). A solution that allows for the analysis of genomic data and incorporates the latest advances in Biomedicine, applying Artificial Intelligence and various Machine Learning algorithms to optimize the analysis process and achieve even better and more reliable results. This will also help to avoid errors at critical stages of the process.

The students have been developing a pathogenicity prediction model of genetic variants with AI.

Thank you, Yilmaz and Yasmine, for the fantastic work you have done over the past months.