Figure 2.

Representation and functioning of appMAGI workflow. The workflow can be divided in 4 main areas. (A) Sample are received from the clinician and get registered in the system. In all the data for a sample are available the sample can be analysed, else a non-compliance instance is open. (B) Samples are analyzed with the technique of choice and results are upload in appMAGI. (C) The geneticist visualize the results and select the variant of interest for a particular sample, if necessary the variants are confirmed with Sanger centrally sequencing. (D) The final report is generated with patient, analysis and variant information and sent back to the clinician