ICNA by ICNA, 3 years ago
"Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform"

RD-Connect is an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
This is a recording of one of the joint RD-Connect and ERN EURO-NMD webinars organised for the members of the European Reference Networks. Steven Laurie explains how to use the powerful and user-friendly analysis tools in the RD-Connect Genome-Phenome Analysis Platform to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows users to compare their data with data submitted by others to find confirmatory cases for their candidate variants.
More information:
Official RD-Connect website http://rd-connect.eu/
RD-Connect Facebook page https://www.facebook.com/rdconnect/
RD-Connect Twitter (@ConnectRD) https://twitter.com/ConnectRD

This work has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305444.