GREGoRi Technology Integration Center
Funds the centre that turns new molecular methods for rare-disease diagnosis into standards, best practices and a benchmarking dataset.
New molecular methods for finding the cause of a rare genetic disorder arrive faster than anyone agrees on how to use them. This centre exists to close that gap.
The wider programme is trying to change how rare disease is diagnosed by rethinking the tools, the molecular technologies and the analytical approaches used to identify the causal gene or variant.
This centre's job is standards and best…
A single technology integration centre developing standards and best practices for applying new and emerging molecular methods to rare-disease diagnosis, and producing a multidimensional dataset for the development and benchmarking of novel diagnostic tools and strategies. Clinical trials are optional.
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