The In2Genome project (CENTRO-01-0247- FEDER-017800) aimed to develop a new approach to diagnosing genetic diseases based on complete exome sequencing and multidisciplinary analysis and interpretation of genomic data. The project involved three partners, Coimbra Genomics, the lead partner, the Medical Genetics Unit of the Centro Hospitalar e Universitário de Coimbra and Genoinseq, the Next Generation Sequencing Unit of Biocant. The complementary skills of these three promoters allowed us to develop an approach to genetic diagnosis based on the integration of cutting-edge knowledge in the area of ​​human genetics and exome sequencing and on the most recent genetic information management platform developed by Coimbra Genomics.

The project was successful at the scientific and technological levels, with a diagnosis rate of 45.2%, much higher than the 36% rate described in the literature. In2Genome provided 28 patients and their families the correct diagnosis and, in some cases, the end of the diagnostic odyssey. Obtaining a correct diagnosis allows patients the most appropriate treatment and their families to plan their future more effectively.