Year: 2015
Type: article
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.
Source: Human Mutation
DOI: 10.1002/humu.22858
Authors: 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
Institutions: Broad Institute, Brigham and Women's Hospital, Harvard University, Massachusetts Institute of Technology, Centro Nacional de Análisis Genómico, University of Leicester, Boston Children's Hospital, Manton Center for Orphan Disease Research, University of Toronto, Hospital for Sick Children, Maastricht University Medical Centre, Radboud University Medical Center, Google (United States), McGill University, Leiden University Medical Center, Cambridge University Hospitals NHS Foundation Trust, Baylor College of Medicine, Oregon Health & Science University, Johns Hopkins University, Children's Hospital of Eastern Ontario, Wellcome Sanger Institute, Lawrence Berkeley National Laboratory, European Bioinformatics Institute, Wellcome Trust, University of California, Santa Cruz, Berlin-Brandenburger Centrum für Regenerative Therapien, Max Planck Institute for Molecular Genetics, Freie Universität Berlin, Charité – Universitätsmedizin Berlin, University of Applied Sciences Leiden, Genetic Alliance, University of Miami, Dr. John T. Macdonald Foundation
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $2,740
Funders: U.S. Department of Energy, Robert Wood Johnson Foundation, California HIV/AIDS Research Program, Patient-Centered Outcomes Research Institute, Genome Canada, Wellcome Trust, Ontario Genomics, Ontario Genomics Institute, European Commission, Hospital for Sick Children, National Institutes of Health, Office of Science, Seventh Framework Programme, Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council of Canada, Garron Family Cancer Centre, National Human Genome Research Institute, National Cancer Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, Basic Energy Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G119964413, G1286236842, G1286251239, G16587699, G1751891674, Baylor-Johns Hopkins Center for Mendelian Genetics, G209825041, G2247631276, G2618837358, RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, Genomic Studies in Charcot-Marie-Tooth Disease, G2800009104, The Inherited Neuropathy Consortium (INC) RDCRC- Overall, G2973790809, G30197192, G30714459, G3083819904, G3207356259, The Monarch Initiative: Linking Diseases to Model Organism Resources, G382641700, G393177772, G4061288673, G419881185, G42916606, Biobank Standardisation and Harmonisation for Research Excellence in the European Union, Coordinating Center for the Undiagnosed Disease Network Phase II, The Human Genome Sequencing Center, G4501827968, G453472327, G4612446324, G498139845, Genome Sequence-Based Screening for Childhood Risk and Newborn Illness, G526230902, Clinical Genome Resource, Multidimensional Epigenomics Mapping Centre (EMC) at McGill, G5702163051, G6011612225, G650090426, G6652958823, Center for Integrated Approached to Undiagnosed Diseases, G6767173602, G7192009441, G7756900839, Integrative Epigenomic Data Coordination Centre (EDCC) at McGill, Center for Big Data in Translational Genomics, G8864556885, Genome Studies in Hereditary Spastic Paraplegia- Beyond the Exome, Training Grant in Genetics, G969889393
OpenAlex ID: W2161360183