4 October 2018
We are delighted to announce that the series of RD-Connect webinars are now available online.
As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs.
These webinars which where held in September 2018 were very well received and to ensure they achieve their maximum potential they were recorded for future use.
These recording have since been adapted to produce a series of three videos.
Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain
Thursday 6th September 2018
This video will demonstrate how to use the powerful and user-friendly analysis tools in the GPAP to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community, and further afield, to find confirmatory cases for your candidate variants.
Mary Wang, Fondazione Telethon, Milan, Italy
Tuesday 18 September 2018
This video demonstrates how to use two tools that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let you find rare disease biobanks and browse their sample collections, with detailed information about each individual sample.
Marco Roos, Leiden University Medical Center, The Netherlands
Wednesday 26 September 2018
This video will explain what makes data Findable, Accessible, Interoperable and Reusable (FAIR) and why it is critical that different types of information, such as medical records, clinical and phenotypic data, test results, sequencing data and biosample details are made FAIR at the source.