Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020
Volume 21, Issue -, Pages 305-326Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-083118-014915
Keywords
Matchmaker Exchange; candidate genes; genomic matchmaking; data sharing; gene discovery; rare diseases
Categories
Funding
- National Human Genome Research Institute [U54HG006542, UM1HG008900, R01HG009141, U41HG006834, UM1HG006493, U24HG008956]
- National Heart, Lung, and Blood Institute [UM1HG006493, U24HG008956]
- National Institutes of Health Office of the Director [S10OD021553, R24OD011883]
- Genome Canada (CAN-SHARE)
- Canadian Institutes of Health Research
- RD-Connect (European Union Seventh Framework Programme) [305444]
- Solve-RD (European Union Horizon 2020) [779257]
- European Joint Programme on Rare Diseases (European Union Horizon 2020) [825575]
- BigMed
- Norwegian Research Council
- Wellcome [206194]
Ask authors/readers for more resources
In the last decade, exome and/or genome sequencing has become a common test in the diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this test leaves the majority of tested individuals undiagnosed. This review describes the Matchmaker Exchange (MME), a federated network established to facilitate the solving of undiagnosed rare-disease cases through data sharing. MME supports genomic matchmaking, the act of connecting two or more parties looking for cases with similar phenotypes and variants in the same candidate genes. An application programming interface currently connects six matchmaker nodes-the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER), GeneMatcher, PhenomeCentral, seqr, MyGene2, and the Initiative on Rare and Undiagnosed Diseases (IRUD) Exchange-resulting in a collective data set spanning more than 150,000 cases from more than 11,000 contributors in 88 countries. Here, we describe the successes and challenges of MME, its individual matchmaking nodes, plans for growing the network, and considerations for future directions.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available