Format

Send to

Choose Destination
Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Author information

1
The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
2
Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.
3
Harvard Medical School, Boston, Massachusetts.
4
Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.
5
Centro Nacional de Análisis Genómico, Barcelona, Spain.
6
Department of Genetics, University of Leicester, Leicester, UK.
7
Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
8
Department of Computer Science, University of Toronto, Toronto, Canada.
9
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
10
Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
11
Radboud University Medical Center, Department of Human Genetics, Nijmegen 6500 HB, The Netherlands.
12
Maastricht University Medical Center, Department of Clinical Genetics, Maastricht 6202AZ, The Netherlands.
13
Gene Cloud, California.
14
Google Inc, Mountain View, California.
15
Centre of Genomics and Policy, Faculty of Medicine, McGill University, Quebec, Canada.
16
Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
17
East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
18
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030.
19
The Genesis Project Inc, Miami, Florida.
20
Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.
21
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
22
The Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
23
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.
24
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, 02115.
25
Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California.
26
European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.
27
UC Santa Cruz Genomics Institute, Santa Cruz, California.
28
Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.
29
Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
30
Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin 14195, Germany.
31
Berlin Brandenburg Center for Regenerative Therapies, Berlin 13353, Germany.
32
FS Consulting LLC, Salem, Massachusetts, 01970.
33
Generade Center of Expertise Genomics, University of Applied Sciences Leiden, Leiden, The Netherlands.
34
Genetic Alliance, Washington, District of Columbia.
35
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.
36
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
37
Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.

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.

KEYWORDS:

GA4GH, IRDiRC; Matchmaker Exchange; gene discovery; genomic API; matchmaking; rare disease

PMID:
26295439
PMCID:
PMC4610002
DOI:
10.1002/humu.22858
[Indexed for MEDLINE]
Free PMC Article

Publication types, MeSH terms, Grant support

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center