To facilitate rare disease research, RD-Connect helps scientists make their data available to the wider rare disease research community. RD-Connect uses the European Genome-phenome Archive (EGA) as the repository for raw genomic data (in BAM/FastQ formats). Data from collaborating projects are first deposited in the EGA and standardly reprocessed to ensure cross-compatibility. The RD-Connect platform picks up the raw data files from the EGA, runs them through a standard analysis pipeline, and outputs as a gVCF file. The output data is indexed and securely stored in the platform database at the Centro Nacional de Análisis Genómico in Barcelona. Where available, the processed data is combined with phenotype data (based on Human Phenotype Ontology (HPO) terms) uploaded on PhenoTips and with biomaterial information. Researchers approved by a data access committee gain secure access to the RD-Connect Platform, where they can compare, filter and analyse different data sets using an integrated suite of bioinformatics tools.
How to contribute your data
The genomic analysis interface on the RD-Connect Platform is currently open for beta-testing by our partner projects NeurOmics and EURenOmics – other users can register later this year. We will publish detailed instructions for user registration and data submission soon.
Contact us – – to be notified when you can access the platform.
In the meantime, if you are interested in contributing genomic data to the platform please ensure that you check the following:
- Consent forms – do they cover data sharing for research purposes?
- Phenotypic data – do you have a detailed phenotype for each participant?
- Genomic data – do you have access to the BAM / FastQ files from your sequencing experiments?
The procedure in brief:
- Register to the RD-Connect Platform (available soon). For data security reasons, your registration must be first approved by a data access committee.
- Upload the raw data to EGA in BAM/FastQ formats. Depending on the case, this is done by the researcher, by the sequencing provider or with assistance from RD-Connect.
- Upload the patient phenotype data to RD-Connect using the PhenoTips online tool. The data must be represented using the Human Phenotype Ontology. If it is not, PhenoTips can help you with that.
More details coming soon.