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Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2020-09-01 , DOI: 10.1146/annurev-genom-083118-014915
Danielle R Azzariti 1 , Ada Hamosh 2
Affiliation  

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.

中文翻译:


新型孟德尔病基因发现的基因组数据共享:媒人交流。

在过去的十年中,外显子组和/或基因组测序已成为诊断患有罕见孟德尔疾病特征的个体的常用方法。尽管获得了成功,但该测试仍使大多数被测试者未被诊断。这篇评论描述了Matchmaker Exchange(MME),这是一个联邦网络,旨在通过数据共享来解决未诊断的罕见病病例。MME支持基因组配对,这是将两个或多个参与方联系起来以寻找在相同候选基因中具有相似表型和变异的病例的行为。目前,一个应用程序编程接口连接了六个媒人节点-使用整合资源的人类染色体失衡和表型数据库(DECIPHER),GeneMatcher,PhenomeCentral,seqr,MyGene2以及罕见病和未诊断疾病倡议(IRUD)交流-得出了来自88个国家/地区的11,000多位参与者的15万多例病例的集体数据集。在这里,我们描述了MME,其个体配对节点,网络发展计划以及未来方向的考虑因素的成功与挑战。

更新日期:2020-09-03
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