Article
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Human mutation - 1 Oct 2015
Buske Orion J, Schiettecatte François, Hutton Benjamin, Dumitriu Sergiu, Misyura Andriy, Huang Lijia, Hartley Taila, Girdea Marta, Sobreira Nara, Mungall Chris, Brudno Michael
Abstract excerpt
Despite the increasing prevalence of clinical sequencing, the difficulty of identifying additional affected families is a key obstacle to solving many rare diseases. There may only be a handful of similar patients worldwide, and their data may be stored in diverse clinical and research databases. Computational methods are necessary to enable finding similar patients across the growing number of patient...
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