PhenoSystems was work package leader for bioinformatics in the NMDchip project which finished successfully end of 2011.
Today, at the end of the project, the two first generations of CGH NMD-chips including all the known genes have been validated, and it is proposed that they become part of the diagnostics workflow to progressively replace the current techniques. The capture chips have been compared with the "in-solution" capture tools that have emerged as an alternative solution during the past two years. Due to the rapid advances of technology, this part of the work has not been completely resolved and it is still unclear whether one approach is better than the other. The CGH chips have been validated on previously characterised DNA with several deletions or insertions in LAMA2, DYSF, CAPN, DMD, PMP22, COL6A genes and others. Several uncharacterised patients have been provided with a molecular diagnosis, thus making the project a success.