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.

This study was designed 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 being to accelerate the functional interpretation of genetic variants.

The intention is that researchers and others working specifically on rare disease will benefit by the improved access to genoptype-phenotype data, recomended ontologies, evaluated tools and sources concerning: 

  • Rare disease pathways (WikiPathways)  
  • Drug development 
  • Drug target interactions (ChEMBL) 

The study has now finished, the end report is available here, and includes details of a number of papers, tools and datasets. This is a growing area with a great need for wider knowledge disemination, training and building a standardised approach across clinicians and researchers. 

Webinar ourtlining the results of the Implementation Study 

(rec. Feb 2018) 


1 April 2017 to 31 December 2017

Nodes involved: 


People involved: 

Chris Evelo
Salvador Capella-Gutierrez
Friederike Ehrhart