Interpretation of phenotypic and genotypic variation for rare diseases in terms of biological pathways

In the process of establishing the functional consequences of putative or known genetic variants associated with disease, it is imperative to search worldwide resources and data for evidence already available. In the rare disease field, the challenges of doing this are pronounced as data are often fragmented as disease cohorts are small and managed by specialised researchers/physicians.

The aim of this study will be to map out the requirements for making sources of data FAIR, with a particular focus on interoperability as well as enabling federated queries. The overall aim will be to accelerate the functional interpretation of genetic variants.


1 April 2017 to 31 December 2017

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