For rare disease clinicians and scientists analyzing exome sequencing data and encountering novel candidate genes, a new platform- Matchmaker Exchange- is available. The Matchmaker Exchange supports collaboration among rare disease professionals to address the common challenge of exome and genome interpretation in both research and clinical settings. It involves a large and growing number of teams and projects working towards an exchange platform to facilitate matching cases with similar phenotypic and genotypic profiles through standardized application programming interfaces and procedural conventions.
To learn more about this new platform, IRDiRC co-organizes a community engagement event at ASHG 2015 regarding how to use Matchmaker Exchange to find other rare disease cases that may match your case and help build evidence for novel gene discovery. Anyone attending the ASHG 2015 conference is welcomed to join the Matchmaker Exchange information session to learn more about this project. Join us on 7 October from 7-9 PM!