matchmakerexchange.github.io/index.html at master · MatchmakerExchange/matchmakerexchange.github.io · GitHub

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---
title: Home
footer_stripe: true
---
{% include header.html %}
<div id="content" class="container"> </div>
<div class='row-fluid clearfix bg-dark-grey padding-top-lg'>
  <div class='col-sm-12 padding-top-lg'> <img src='assets/images/matchmaker-exchange-banner7-2.png' class='img-responsive center-block' /> </div>
</div>
<div class='container'>
  <div class='row-fluid clearfix bg-center-stripe padding-bottom-lg padding-top-lg'>
    <div class='col-sm-6 col-xs-12'>
      <div class='padding-left-lg padding-right-lg margin-left-md margin-right-md padding-top-lg'>
        <h2>The Challenge</h2>
        <p>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.</p>
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      <div class='padding-left-lg padding-right-lg margin-left-md margin-right-md padding-top-lg'>
        <h2>The Solution</h2>
        <p>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.</p>
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        <h2><span class='text-md'><a name='Supporters'></a>Matchmaker Exchange</span></h2>
      </div>
      <div class='col-sm-6 text-left padding-left-md hidden-xs'>
        <h2><span class='text-md'>Connected Nodes</span></h2>
      </div>
      <div class='col-sm-12 visible-xs'>
        <h2>Matchmaker Exchange Connected Nodes</h2>
      </div>
      <div class="col-sm-10 col-sm-offset-1 padding-top-lg padding-bottom-lg">
        <img src='assets/images/wheel.png' class='wheel img-responsive' />
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  <div class='row-fluid clearfix bg-center-stripe padding-bottom-lg padding-top-sm'>

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        <h2>Funding</h2>

        <p>
          Matchmaker Exchange benefits from ongoing standards and policy development through collaboration with the Global Alliance for Genomics and Health (GA4GH) and the International Rare Diseases Research Consortium (IRDiRC). Funding for the project is provided by individual database nodes.

        </p>
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    </div>

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        <h2>How to Cite</h2>
        <blockquote class="text-sm">
        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. <a href="http://onlinelibrary.wiley.com/doi/10.1002/humu.22858/full">The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery</a>. <em>Human Mutation</em>, <strong>36</strong>: 915–921. doi:<a href="http://dx.doi.org/10.1002/humu.22858">10.1002/humu.22858</a>

        [<a href="assets/files/philippakis2015matchmaker.bib">BibTex</a>]
        </blockquote>
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    </div>


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        <h2>Contact</h2>
        For more information or to provide feedback on the website, please contact <a href="mailto:info@matchmakerexchange.org">info@matchmakerexchange.org</a>
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    </div>
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{% include footer.html %}