Conclusions

PatientMatcher is curated and maintained by Clinical Genomics, SciLifeLab in collaboration with the Genomic Medicine Center Karolinska at the Karolinska University Hospital, Stockholm. It is an open-source solution for clinical laboratories and research facilities who wish to join the federated MME network as independent nodes. Among the advantages of administering an independent node there is the control over the data submitted to the server. National legislation, for instance, might hinder storing sensitive data on cloud solutions or on servers located in other geographical areas. In a time of rapidly increasing genetic data generation, this MME implementation is meant to provide an easy-to administer tool to collect patient information and perform extensive comparisons between patients within the internal database or from external nodes. In order to reach as many users as possible we have designed a standalone application with customizable settings to harmonize the matching algorithm and notifications with data structures and routines present in different host centers. At the same time, we have established a pipeline where candidate variants or genes with linked patient phenotypes analyzed using the Scout decision support solution can be easily shared to the MME. In order to improve the code and better meet user expectations we look forward to collaborating with interested third parties to further develop the tool and its underlying matching algorithms. In conclusion, we look forward to teaming up with other clinical laboratories to share candidate gene-to-phenotype associations to contribute to the accelerating disease gene discovery.