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In2Genome: integrative approach in the diagnostics of genetic diseases
In2Genome is a collaborative project aiming to accelerate the diagnosis of rare genetic diseases.

In2Genome is a collaborative project to accelerate the diagnosis of genetic diseases. The project aims at the development of a new approach to the diagnosis of rare genetic diseases based on personal genetic information provided by whole-exome analysis. Focused on neurodevelopmental disorders, the project will analyze a group of patients with intellectual disability syndromes to obtain faster and precise diagnostics and better manage patient’s disease.

Financed by EU funds through P2020, In2Genome gathers a team of sequencing, clinical genetics and personalized medicine experts. Coimbra Genomics will participate through its personalized medicine platform ELSIE, the Medical Genetics Unit of CHUC will select patients and provide genetic diagnostics and Genoinseq will sequence the whole-exomes of the participating patients. Genoinseq will also develop new tools for ExomeLoupe, Genoinseq’s exome analysis platform, in particular, for the genetic analysis of trios.


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