Data from the sequencer is processed through a bioinformatics pipeline (currently GATK, soon transitioning to DRAGEN), which outputs all possible variants relative to the reference genome in tabular form in a VCF file. This VCF file is imported into the software, where annotation first takes place: all valid variants are separated from invalid variants based on quality parameters. Because this results in a large number of variants, they are subsequently filtered based on laboratory defined criteria, such as genomic position, population frequency, known pathogenicity based on literature or insilico prediction tools. All remaining variants must then be interpreted using various tools/databases. The software supports the use and visualisation of data from these tools, enabling fast and efficient interpretation — including through an AI tool that proposes the most likely causal variant for the disorder. software will be used by more or less 200 personel for diagnostics and research purposes. estimated value is based on 8 years

Dear Sir/Madam, In the context of the ongoing procurement procedure, we hereby inform you of a decision taken by the contracting authority. After reviewing the questions submitted and noting the limited number of substantive requests for amendments to the agreement and its applicable terms and conditions, we have concluded that the current procedure will not lead to a successful outcome. In particular, the references made to suppliers’ own terms and conditions—rather than concrete proposals for amendments submitted through the Q&A process—prevent us from establishing a level playing field and a legally robust agreement within the procurement framework. Our preference was to address any proposed adjustments to the agreement through the formal Q&A process, ensuring that all tenderers could participate under equal and transparent conditions. However, the nature and scope of the questions received indicate that this is not feasible within the current setup. For this reason, the contracting authority has decided to withdraw the procurement procedure in its current form. We intend to engage in discussions with a number of market parties to explore under which conditions an agreement could be successfully concluded. Based on the insights gained from this market consultation, we may consider publishing a shortened procedure at a later stage with other term and conditions. We thank you for your efforts to date and will keep you informed of any further steps. Yours sincerely, Rick van den Dolder Stichting Amsterdam UMC.