Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform
- Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain;
- Thursday 6 September 2018, 15:00 CEST
In this webinar, you will learn how to use the powerful and user-friendly analysis tools in the Platform 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.
Finding registries and biosamples in just few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue
- Mary Wang, Fondazione Telethon, Milan, Italy;
- Tuesday 18 September 2018, 15:00 CEST
This webinar will demonstrate 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.
Linking up all those data: why should we make data FAIR
- Marco Roos, Leiden University Medical Center, The Netherlands;
- Wednesday 26 September 2018, 15:00 CEST
The webinar will explain what are Findable Accessible Interoperable and Reusable (FAIR) data and why it is critical that different types of information, such as medical records, examination tests, sequencing results and availability of biosamples, are made FAIR at the source.