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 Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm

doi:10.1002/humu.22858

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The Matchmaker Exchange: a platform for rare disease gene discovery

Journal article

Open access

Peer reviewed

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, …

Human mutation, Vol.36(10), pp.915-921

2015-10

DOI: https://doi.org/10.1002/humu.22858

PMCID: PMC4610002

PMID: 26295439

Abstract

Rare Diseases - genetics

Genetic Predisposition to Disease - genetics

Genetic Association Studies

Database Management Systems

Humans

Information Dissemination - methods

Databases, Genetic

Software

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.

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Collaboration types: Industry collaboration; Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.189 Genome Studies; 1.189.597 BRCA1
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: The Matchmaker Exchange: a platform for rare disease gene discovery
Creators: Anthony A Philippakis - Harvard Medical School, Boston, Massachusetts
Danielle R Azzariti - Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts
Sergi Beltran - Centro Nacional de Análisis Genómico, Barcelona, Spain
Anthony J Brookes - Department of Genetics, University of Leicester, Leicester, UK
Catherine A Brownstein - Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts
Michael Brudno - Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
Han G Brunner - Maastricht University Medical Center, Department of Clinical Genetics, Maastricht 6202AZ, The Netherlands
Orion J Buske - Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
Knox Carey - Gene Cloud, California
Cassie Doll - Google Inc, Mountain View, California
Sergiu Dumitriu - Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
Stephanie O M Dyke - Centre of Genomics and Policy, Faculty of Medicine, McGill University, Quebec, Canada
Johan T den Dunnen - Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Helen V Firth - East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Richard A Gibbs - Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030
Marta Girdea - Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
Michael Gonzalez - The Genesis Project Inc, Miami, Florida
Melissa A Haendel - Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon
Ada Hamosh - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland
Ingrid A Holm - Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts
Lijia Huang - The Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
Matthew E Hurles - Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
Ben Hutton - Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
Joel B Krier - Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, 02115
Andriy Misyura - Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
Christopher J Mungall - Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California
Justin Paschall - European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK
Benedict Paten - UC Santa Cruz Genomics Institute, Santa Cruz, California
Peter N Robinson - Berlin Brandenburg Center for Regenerative Therapies, Berlin 13353, Germany
François Schiettecatte - FS Consulting LLC, Salem, Massachusetts, 01970
Nara L Sobreira - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland
Ganesh J Swaminathan - Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
Peter E Taschner - Generade Center of Expertise Genomics, University of Applied Sciences Leiden, Leiden, The Netherlands
Sharon F Terry - Genetic Alliance, Washington, District of Columbia
Nicole L Washington - Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts
Stephan Züchner - 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
Kym M Boycott - Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Heidi L Rehm - Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts
Publication Details: Human mutation, Vol.36(10), pp.915-921
Publisher: United States
Grant note: 5R01NS072248 / NINDS NIH HHS U01 HG007690 / NHGRI NIH HHS U19 HD077671 / NICHD NIH HHS U01 HG007530 / NHGRI NIH HHS EP1-120608 / Canadian Institutes of Health Research HD077671 / NICHD NIH HHS U54HG006542 / NHGRI NIH HHS T32GM007748 / NIGMS NIH HHS R01 NS075764 / NINDS NIH HHS T32 GM007748 / NIGMS NIH HHS R24 OD011883 / NIH HHS U54NS065712 / NINDS NIH HHS EP2-120609 / Canadian Institutes of Health Research WT098051 / Wellcome Trust U54 NS065712 / NINDS NIH HHS U54HG003273 / NHGRI NIH HHS HG007530 / NHGRI NIH HHS U54 HG007990 / NHGRI NIH HHS N01CO42400-80 / NCI NIH HHS U41 HG006834 / NHGRI NIH HHS 5R24OD011883 / NIH HHS U54HG007990 / NHGRI NIH HHS U41HG006834 / NHGRI NIH HHS U54 HG003273 / NHGRI NIH HHS R01NS075764 / NINDS NIH HHS U54 HG006542 / NHGRI NIH HHS HG007690 / NHGRI NIH HHS R01 NS072248 / NINDS NIH HHS
Academic Unit: Leadership Department; Miller School of Medicine; John P. Hussman Institute for Human Genomics
Language: English
Resource Type: Journal article
PMID: 26295439
PMCID: PMC4610002
Record Identifier: 991031577190402976