Front Cover: The cover image is based on the Editorial Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking by Heidi L Rehm et al., https://doi.org/10.1002/humu.24373.

GeneMatcher is the leading resource for connecting individuals with an interest in the same gene from around the world to create collaborations and generate the evidence needed to support novel disease gene identification. GeneMatcher is a founding member of the Matchmaker Exchange (matchmakerexchange.org) and all GeneMatcher submissions are open to matching from any connected node. The thousands of unique gene matches have already generated over 500 publications.

The DECIPHER web platform supports the sharing and interpretation of rare disease phenotype-linked variant data to advance diagnosis and research.

The RD-Connect Genome-Phenome Analysis Platform (GPAP) is a scalable and interoperable online system which facilitates the collation, analysis, interpretation and sharing of integrated genome-phenome datasets, with a particular focus on RD case diagnosis and novel gene discovery. It is free to use for all noncommercial members of the rare disease research community.

In September 2017, we released PubCaseFinder (https://pubcasefinder.dbcls.jp), a web-based clinical decision support system that provides ranked lists of genetic and rare diseases using Human Phenotype Ontology-based phenotypic similarities, where top-listed diseases represent the most likely differential diagnosis. In this paper, we describe notable updates regarding PubCaseFinder, the GeneYenta matching algorithm implemented in PubCaseFinder, and the PubCaseFinder API.

ModelMatcher is a matchmaking website that connects various stakeholders of rare and undiagnosed research to scientists with specific expertise and interests. This platform is connected with large clinical and scientific registries through Matchmaker Exchange and Rare Diseases Models and Mechanisms Networks, respectively, facilitating cross-disciplinary collaborations on a global scale.

GeneDx GeneMatcher Connection Workflow

Selective sharing of candidates with strong evidence aids efficient gene characterization.

Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). Beacon version 2 serves real world requirements and addresses the needs of clinical genomics research and healthcare, allowing implementing consortia to return matches in beacon responses and provide a handover to their preferred data exchange format. Beacon is designed as a “lingua franca” to bridge data collections hosted in software solutions with different and rich interfaces. Beacon queries could be send to Beacon instances directly or via Beacon networks. The response could be yes/no, counts or details if the user is properly authorized.

Here we present Genomics4RD, an integrated and internationally accessible web platform, to share, store, and visualize phenotypic and multiomic data from rare disease patients across Canada. Genomics4RD is connected to several other rare disease databases for the purposes of matchmaking and disease-gene discovery.