Concluding Remarks
Over the past seven years, the MME has made outstanding contributions to the discovery of novel disease-gene relationships and is relied on heavily by both the research and clinical rare disease communities. Moving forward, there are opportunities to improve the efficiency of the MME, particularly by encouraging all submissions to share phenotypic and inheritance information with submissions. Although most nodes in MME have from the outset included information about phenotype and inheritance alongside variant submissions, most entries in GeneMatcher, the most widely used node, have not, and therefore we call on the community to quickly move in this direction. Genomic matchmaking approaches continue to evolve and novel approaches to discovery are now underway to ensure that no dataset gets left behind. Connections to literature, model organism resources and scientists, as well as patient-driven matchmaking are all innovative approaches contributing to the ultimate goal of being able to provide diagnostic clarity, biological insight, and social support for the thousands of rare genetic diseases.