matchbox: An open-source tool for patient matching via the Matchmaker Exchange

Rare disease investigators constantly face challenges in identifying additional cases to build evidence for gene-disease causality. The Matchmaker Exchange (MME) addresses this limitation by providing a mechanism for matching patients across genomic centers via a federated network. The MME has revol...

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Publicado en:Hum Mutat
Autores principales: Arachchi, Harindra, Wojcik, Monica H, Weisburd, Benjamin, Jacobsen, Julius O. B., Valkanas, Elise, Baxter, Samantha, Byrne, Alicia B., O’Donnell-Luria, Anne H., Haendel, Melissa, Smedley, Damian, MacArthur, Daniel G., Philippakis, Anthony A., Rehm, Heidi L.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6250066/
https://ncbi.nlm.nih.gov/pubmed/30240502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23655
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