The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Girdea, Michael Gonzalez, Melissa A. Haendel, Ada Hamosh, Ingrid A. HolmLijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Christopher J. Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, Francois Schiettecatte, Nara L. Sobreira, Ganesh J. Swaminathan, Peter E. Taschner, Sharon F. Terry, Nicole L. Washington, Stephan Zuechner, Kym M. Boycott, Heidi L. Rehm

Research output: Contribution to journalArticleAcademicpeer-review

46 Citations (Scopus)
Original languageEnglish
Pages (from-to)915-921
JournalHuman Mutation
Volume36
Issue number10
DOIs
Publication statusPublished - Oct 2015

Keywords

  • matchmaking
  • rare disease
  • genomic API
  • gene discovery
  • Matchmaker Exchange
  • GA4GH, IRDiRC

Cite this

Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., Dumitriu, S., Dyke, S. O. M., den Dunnen, J. T., Firth, H. V., Gibbs, R. A., Girdea, M., Gonzalez, M., Haendel, M. A., Hamosh, A., ... Rehm, H. L. (2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36(10), 915-921. https://doi.org/10.1002/humu.22858