|Analysing autosomal recessive variants||Uploading phenotypic data in PhenoTips||Filtering variants using OMIM and ORDO terms|
|Tagging variants||Searching across the whole database|
|Registry & Biobank Finder - adding your registry/biobank||Registry & Biobank Finder - searching for registries/biobanks||Sample Catalogue webinar for biobank managers|
|Recommendations to create Rare Disease Registries|
|What is RD-Connect? - EURORDIS webinar||General Data Protection Regulation - EURORDIS webinar||Patient perspective on data sharing in rare disease research|
|Genome-Phenome Analysis Platform||Registry & Biobank Finder and Sample Catalogue||Linking up all those data - why should we make data FAIR?|
The RD-Connect Community is an independent, non-governmental, not-for-profit, international association of individuals and organizations sharing the vision of building an open community that works to improve rare disease research. The Community’s mission is to promote, facilitate and accelerate rare disease research by maximizing the availability and (re)use of rare disease data and biosamples through provision of infrastructure, tools and services to share, analyse and link datasets and biosamples in a secure and regulated way. By promoting data sharing and analysis tools and the data sharing ethos among rare disease researchers and clinicians and by raising awareness among patient communities and policy makers, the community aims to maximise the impact of the tools and services developed by RD-Connect members.
ERNs’ virtual consultations are carried out through the CPMS system, these advisory boards follow a series of steps listed below. Experts across Europe are invited to collaborate giving advice in consultation panels in the diagnosis or treatment of low prevalence and complex conditions