Visualization of aligned genomics data for rare diseases (RD-Connect) as a driver for real-time access of controlled data at the EGA

RD-Connect is a platform for rare disease research that includes integrated analysis tools for whole human genome and exome data. The platform distributes variant calls, deposited at the European Genome-phenome Archive (EGA) while still controlled by RD-Connect, thereby avoiding duplication of processed data-sets and save network bandwidth.

This Implementation Study is a pilot of a robust, real-time visualization of genomic data, using the GA4GH htsget API to integrate data into the IGV genome browser within the RD-Connect genome-phonome analysis platform. The is currently used by more that 450 researchers, clinicians and bioinformaticians across 130 establisments in 15 countries. Visualisation of these data adds value to the RD-Connect service which could be offered to the wider EGA user community.

The study has been completed, the end report is available through the ELIXIR F1000R channel

Other Implementation Studies: 


1 April 2017 to 31 March 2018

Nodes involved: 


People involved: 

Sergi Beltran
Jordi Rambla
Joaquin Dopazo
Salvador Capella-Gutierrez
Thomas Keane