title: The Matchmaker Exchange: a platform for rare disease gene discovery.
abstract: There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can "match" these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.
authors: The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.|Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors: Anthony A
authors: AA
authors: Philippakis
authors: Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.
authors: Danielle R
authors: DR
authors: Azzariti
authors: Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors: Sergi
authors: S
authors: Beltran
authors: Department of Genetics, University of Leicester, Leicester, UK.
authors: Anthony J
authors: AJ
authors: Brookes
authors: Harvard Medical School, Boston, Massachusetts.|Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
authors: Catherine A
authors: CA
authors: Brownstein
authors: Department of Computer Science, University of Toronto, Toronto, Canada.|Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.|Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
authors: Michael
authors: M
authors: Brudno
authors: Radboud University Medical Center, Department of Human Genetics, Nijmegen 6500 HB, The Netherlands.|Maastricht University Medical Center, Department of Clinical Genetics, Maastricht 6202AZ, The Netherlands.
authors: Han G
authors: HG
authors: Brunner
authors: Department of Computer Science, University of Toronto, Toronto, Canada.|Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.|Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
authors: Orion J
authors: OJ
authors: Buske
authors: Gene Cloud, California.
authors: Knox
authors: K
authors: Carey
authors: Google Inc, Mountain View, California.
authors: Cassie
authors: C
authors: Doll
authors: Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
authors: Sergiu
authors: S
authors: Dumitriu
authors: Centre of Genomics and Policy, Faculty of Medicine, McGill University, Quebec, Canada.
authors: Stephanie O M
authors: SO
authors: Dyke
authors: Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: Johan T
authors: JT
authors: den Dunnen
authors: East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
authors: Helen V
authors: HV
authors: Firth
authors: Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030.
authors: Richard A
authors: RA
authors: Gibbs
authors: Department of Computer Science, University of Toronto, Toronto, Canada.|Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
authors: Marta
authors: M
authors: Girdea
authors: The Genesis Project Inc, Miami, Florida.
authors: Michael
authors: M
authors: Gonzalez
authors: Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.
authors: Melissa A
authors: MA
authors: Haendel
authors: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: Ada
authors: A
authors: Hamosh
authors: Harvard Medical School, Boston, Massachusetts.|Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
authors: Ingrid A
authors: IA
authors: Holm
authors: The Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
authors: Lijia
authors: L
authors: Huang
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.
authors: Matthew E
authors: ME
authors: Hurles
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.
authors: Ben
authors: B
authors: Hutton
authors: Harvard Medical School, Boston, Massachusetts.|Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, 02115.
authors: Joel B
authors: JB
authors: Krier
authors: Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
authors: Andriy
authors: A
authors: Misyura
authors: Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California.
authors: Christopher J
authors: CJ
authors: Mungall
authors: European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.
authors: Justin
authors: J
authors: Paschall
authors: UC Santa Cruz Genomics Institute, Santa Cruz, California.
authors: Benedict
authors: B
authors: Paten
authors: Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.|Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.|Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin 14195, Germany.|Berlin Brandenburg Center for Regenerative Therapies, Berlin 13353, Germany.
authors: Peter N
authors: PN
authors: Robinson
authors: FS Consulting LLC, Salem, Massachusetts, 01970.
authors: François
authors: F
authors: Schiettecatte
authors: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: Nara L
authors: NL
authors: Sobreira
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.
authors: Ganesh J
authors: GJ
authors: Swaminathan
authors: Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.|Generade Center of Expertise Genomics, University of Applied Sciences Leiden, Leiden, The Netherlands.
authors: Peter E
authors: PE
authors: Taschner
authors: Genetic Alliance, Washington, District of Columbia.
authors: Sharon F
authors: SF
authors: Terry
authors: Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.
authors: Nicole L
authors: NL
authors: Washington
authors: Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
authors: Stephan
authors: S
authors: Züchner
authors: Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
authors: Kym M
authors: KM
authors: Boycott
authors: The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.|Harvard Medical School, Boston, Massachusetts.|Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.|Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.
authors: Heidi L
authors: HL
authors: Rehm
mesh_terms: D003628:Database Management Systems; D030541:Databases, Genetic; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D035583:Rare Diseases / Q000235:genetics*; D012984:Software
keywords: GA4GH, IRDiRC; Matchmaker Exchange; gene discovery; genomic API; matchmaking; rare disease