The sequencing platform supplies a sequencing service for plasmids or PCR products by Sanger sequencing using a machine (3730 DNA Analyzer, Applied Biosystem). 

This platform sequences  genes associated with different inherited disorders with a main focus on retinal disease:  coding exons and flanking intronic regions of different genes are amplified with the use of polymerase chain reaction (PCR), purified by exo/SAP (exonuclease I/shrimp alkaline phosphatase), and sequenced with the use of a sequencing mix (BigDye Terminator v1.1 Cycle Sequencing Kit, Applied Biosystems) and analyzed on an automated 48-capillary sequencer (ABI 3730 Genetic Analyzer, Applied Biosystems).

The results are interpreted by a software application (SeqScape, Applied Biosystems).

The sequencing platform also validates variants identified by targeted next generation sequencing, whole exome and whole genome sequencing and performs cosegregation and control analysis for the respective variants.

In addition the service sequences plasmids of different researchers of the Institut de la Vision to validate the sequence after cloning or for cellular over-expression analysis.





Christina Zeitz
Scientific supervisor


Christel Condroyer
Technical manager