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Coimbra Genomics Supporting Portuguese Clinical Exome Sequencing Initiative

NEW YORK (GenomeWeb) – Digital health and precision medicine firm Coimbra Genomics today said it has joined the first initiative by a Portuguese hospital center to provide exome sequencing to its patients.

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

The initiative is part of the In2Genome project and aims to develop new methods for exome analysis and to report the results in a molecular diagnostic report. Coimbra Genomics' platform, Elsie, will be used for analysis of clinical cases at the medical genetics unit of Coimbra Hospital and Universitary Centre (CHUC), it said.

In2Genome is led by Coimbra, which is being funded with about €1.2 million ($1.4 million) by Portugal 2020, Compete 2020, and the European Structural and Investment Funds. The project will last from July 1, 2017 to June 30, 2019. The medical genetics unit at CHUC and Genoinseq are partners in In2Genome.

Elsie is digital platform that allows physicians to make diagnostic and prognostic decisions based on a patient's genome.