>>>Implementation of genetic diagnosis based on exome sequencing in clinical practice.

Implementation of genetic diagnosis based on exome sequencing in clinical practice.

Industrial Doctorate Programme 2014. MINECO

NIMGenetics is not only committed to innovation, but also to quality education. For this reason, it promotes Industrial Doctorates to be obtained. This project proposes the development and validation of tools that enable the implementation of exome sequencing data in clinical practice. This exome analysis system has a clearly innovative nature in the Genetic Diagnosis sector, and has made it possible for us to include the ExoNIM® Clinical and ExoNIM® Trio services in our catalogue. ExoNIM® Clinical is a 5,500 gene panel for the diagnosis of over 4,000 genetic diseases, and ExoNIM® Trio integrates the genomic analysis of the patient and their parents, enabling de novo mutations to be discovered within the family.

2018-12-17T16:56:29+01:0017 September , 2018|