Next Cerba Live Session on Thursday 23 March: Analysis of human genomes by optical mapping

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         Join the next Cerba Live Session

         Analysis of human genomes by optical mapping: new perspectives for diagnosis







Dr. Viorica Ciorna, geneticist (CHR Metz-Thionville), Aicha Boughalem and Detlef Trost, geneticists (Cerba) 
Thursday 23 March: 12:30-13:30

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In order to improve the accuracy of the diagnosis of genetic diseases, a new test has been set up in the Cerba laboratory by the human genetics teams. 
This is a new generation cytogenetic diagnostic test more commonly known as Optical Mapping. It allows the analysis of the chromosome structure at a high resolution (up to 500 bp) for balanced and unbalanced structural variants.
Its interest in the diagnosis of patients suffering from a rare disease and in diagnostic errancy will be demonstrated via a concrete clinical case presented by Dr. Viorica Ciorna, geneticist at the CHR of Metz-Thionville.