An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Welcome to the central platform for access to data submitted by RD-Connect’s partner projects. The online genomics analysis interface is currently only open to beta-testers, but we look forward to welcoming additional users later in 2015. Please email platform@rd-connect.eu to register for updates on platform release.
Registration
Some of the RD-Connect data can only be accessed by validated users. For the time being, only a few selected beta testers from our partner projects NeurOmics and EURenOmics are registered.
Registration for other users will open later in 2016. Please email us (platform@rd-connect.eu) if you want to be notified when registration opens.
Genomics
Data from sequencing experiments submitted by participating research projects is processed with a standard pipeline and made available for online analysis through a user-friendly interface to authorised users.
Genomics platform video tutorial »
Explore the genomics platform using WES data from Chromosome 1 of an Illumina Platinum hapmap trio (index NA12878, father NA12891, mother NA12892)
Try out the Genomics Platform » 
PhenoTips
Detailed phenotypic information for the donors with omics data in the system is available in the platform through PhenoTips.
ID-Cards
ID-Cards is an online catalogue listing biobanks and patient registries connected to RD-Connect.
Biosample Catalogue
The biosample catalogue is an online sample-level database enabling researchers to search for rare disease biosamples and contact the biobank holding the samples.
RD-Connect Tools
Bioinformatics tools and related resources developed within or made available through the NeurOmics, EURenOmics and RD-Connect consortia.
Contribute data
RD-Connect accepts data contributions to the project. An automated workflow will be provided in the future, but please contact Rachel Thompson (rachel.thompson@newcastle.ac.uk) for the time being.
