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In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing. 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, but today, case data sits in isolated databases.

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The 'Matchmaker Exchange' project was launched in October 2013 to address this challenge and find genetic causes for patients with rare disease. This involves a large and growing number of teams and projects 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.

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  • DECIPHER
  • GeneMatcher
  • 内蒙古新增境外新冠肺炎输入确诊和疑似病例4例-解决网:2021-6-12 · 抗击新冠肺炎)内蒙古新增境外新冠肺炎输入性确诊病例和疑似病例4例 中新网呼和浩特3月25日电 (记者 张玮)25日凌晨,内蒙古自治区卫生健康委发布消息:2021年3月20日20时至24日22时,内蒙古报告新增境外新冠肺炎输入性病例4例,其中2例 ...
  • MyGene2
  • PatientMatcher
  • PhenomeCentral
  • RD-Connect Genome-Phenome Analysis Platform
  • seqr

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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]

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Representatives from the following organizations participate in Matchmaker Exchange:
  • AGHA Patient Archive
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  • Centers for Mendelian Genomics
  • ClinGen GenomeConnect
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  • LOVD
  • Manton Center for Orphan Disease Research
  • Undiagnosed Diseases Network
Does your organization participate? Email us at info@matchmakerexchange.org to be added to the list.

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This project is funded by database participants and these organizations:
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The Matchmaker Exchange is supported by CanSHARE, International Rare Diseases Research Consortium (IRDiRC), NIH Centers for Mendelian, Genomics, Genome Canada, CIHR, Care4Rare, RD-Connect (EU FP7 #305444).

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For more information or to provide feedback on the website, please contact info@matchmakerexchange.org
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