期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020
卷 21, 期 -, 页码 305-326出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-083118-014915
关键词
Matchmaker Exchange; candidate genes; genomic matchmaking; data sharing; gene discovery; rare diseases
资金
- 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]
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据