• Posted: May 29, 2015
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Matchmaker Exchange

Matchmaker Exchange is a federated network of databases whose goal is to find genetic causes of rare diseases by matching similar phenotypic and genotypic profiles.

About this Project

Matchmaker Exchange

Last Updated: November 2, 2016

Matchmaker Exchange is a collaborative effort to address the common challenge of exome and genome sequencing in both the research and clinical settings wherein the majority of cases lack a clear etiology after initial analysis. For such cases, finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene. Currently, multiple research and clinical laboratories and rare disease consortia independently collect data, but the result is fragmentation of efforts making the aggregation of similar cases difficult.

To address this challenge a meeting was organized by the International Rare Diseases Research Consortium (IRDIRC) and the Clinical Genome Resource (ClinGen) program, resulting in the launch of an open collaboration called the 'Matchmaker Exchange' in October 2013. This involves a large and growing number of teams and projects (see accompanying figure) working towards a federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming interfaces (APIs) and procedural conventions.

The Matchmaker Exchange project is being supported by the database participants involved as well as IRDIRC, ClinGen, and GA4GH.

How to Cite

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SOM, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. 2015. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36: 915–921. doi:10.1002/humu.22858 [BibTex]

Leadership

  • Michael Bamshad
    • University of Washington
    • Seattle, United States
    • Co-Lead, Group
  • Kym Boycott Kym Boycott
    • Children's Hospital of Eastern Ontario Research Institute
    • Ottawa, Canada
    • Co-Lead, Group
  • Michael Brudno
    • Co-Lead, Group
  • Ada Hamosh
    • Johns Hopkins University School of Medicine
    • Baltimore, United States
    • Co-Lead, Group
  • Matthew Hurles
    • Co-Lead, Group
  • Kathryn North Kathryn North
    • Co-Lead, Group
  • Anthony Philippakis Anthony Philippakis
    • Co-Lead, Group
  • Heidi Rehm Heidi Rehm
    • Harvard Medical School
    • Boston, United States
    • Co-Lead, Group

Contact Information

  • Danielle Azzariti
    • Partners Healthcare
    • Cambridge, United States

    Project Details

    Related Working Group(s):

    DataClinical

    Related Work Product(s):

    Team:

    • Michael Bamshad , University of Washington , Seattle, United States
    • Kym Boycott , Children's Hospital of Eastern Ontario Research Institute , Ottawa, Canada
    • Michael Brudno , University of Toronto , Toronto, Canada
    • Ada Hamosh , Johns Hopkins University School of Medicine , Baltimore, United States
    • Matthew Hurles , Wellcome Trust Sanger Institute , Hinxton, United Kingdom
    • Kathryn North , Murdoch Childrens Research Institute , Melbourne, Australia
    • Anthony Philippakis , Broad Institute , Cambridge, United States
    • Heidi Rehm , Harvard Medical School , Boston, United States

    Topics:

    • Database

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