Welcome to the central platform for access to data submitted by RD-Connect’s partner projects. The online Genome-Phenome Analysis Platform is now open for submissions from all users.
This site acts as a dashboard for the component parts of RD-Connect. Here you will find links to the tools and associated guides that have been developed to help you with your rare disease research.
If you would like more information on the RD-Connect project, please visit the RD-Connect Website.
To access the RD-Connect online Genome-Phenome Analysis Platform, you need to be a validated user. We are happy to accept registrations from users who wish to explore the data as well as users who want to submit their genomics data.
To register, please click the button below where we’ll request some information to validate your credentials. If you have any questions, please email us at firstname.lastname@example.org to request access to the analysis interface.
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.
PhenoTips is used to collect standardised phenotypic information from individuals whose omics data will be analysed. Information is collected with customised forms using vocabularies and ontologies such as the Human Phenotype Ontology (HPO), the Orphanet Rare Disease Ontology (ORDO) and Online Mendelian Inheritance in Man (OMIM).