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ELIXIR Implementation Study End Report: Remote real-time visualization of human rare disease genomics data (RD-Connect) stored at the EGA

F1000Research(2018)

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Abstract
The goal of this Implementation Study was to design a robust system for real-time visualization of genomic data through the RD-Connect genome-phenome analysis platform. The study aligned with other ELIXIR and international initiatives such as the interoperability task force has benefited from the deployment and implementation of the Global Alliance for Genomics and Health (GA4GH) streaming API, htsget. This report summarises the activities and results achived within the Implemention Study.
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Key words
genomics,data,real-time,rd-connect
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