The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

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. Co...

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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4775166/
https://ncbi.nlm.nih.gov/pubmed/26255989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22850
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