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 does not distribute raw sequencing data and requires that it is deposited at the European Genome-phenome Archive (EGA, Only the variant calls are available through the RD-Connect platform. However, it would be useful for the authorized users to visualize the alignments (BAM files) on certain genomic regions to, for example, confirm the quality of variant calls or absence of them.

In this study we provide real-time access and rendering of individual donor alignment files stored at the EGA by a genome browser, such as Genome Maps or the Integrated Genome Browser. Files will be submitted, to the EGA, and controlled by RD-Connect and rendering will be done with a genome browser integrated in its platform. This will avoid duplication of processed data-sets and save network bandwidth. The project will seek to be aligned with other ELIXIR and International initiatives such as the interoperability task force and the GA4GH streaming API. Visualisation of these data will be an added value service for RD-Connect which could be offered to the wider EGA user community.


1 April 2017 to 31 March 2018

Nodes involved: 

Platform/Use Case: