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Congenica Joins Portuguese Whole-Exome Sequencing Project

NEW YORK (GenomeWeb) – British clinical genomics interpretation software developer Congenica said today that it has inked a deal with Coimbra (Portugal) Paediatric Hospital to analyze whole-exome sequencing data. 

The children's hospital, part of the Coimbra Hospital and University Centre, is licensing Congenica's Sapientia software platform to produce diagnostic reports for CHUC's In2Genome project.

In2Genome, which launched July 1, is a €1.2 million ($1.4 million) effort to improve the diagnosis of rare diseases via population-wide genomic data. Hospital officials called In2Genome the first initiative by a Portuguese medical center to provide exome sequencing reports to its patients. 

"One of the main aims of In2Genome will be to set up a whole-exome sequencing analysis service at our leading public hospital center," Coimbra Paediatric Hospital medical geneticist Sérgio Sousa said in a statement. "Our first project is the study of a large cohort of patients with neurodevelopmental disorders, namely intellectual disability syndromes with the aim of developing faster precise diagnostics to better support patient’s health and lifestyle outcomes."

Digital health and precision medicine firm Coimbra Genomics already is providing technology to that end. In July, that Portuguese vendor said its Elsie software platform is helping with analysis of clinical cases at the medical genetics unit of Coimbra Hospital and Universitary Centre. 

As part of its support of In2Genome, Coimbra is adapting its platform for integration into the analysis of the exome data.

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