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Webinar on the RD-Connect Genome-Phenome Analysis Platform

Webinar on the RD-Connect Genome-Phenome Analysis Platform

Solve-RD uses the Genome-Phenome Analysis Platform to analyse exome and genome sequencing data of rare disease patients. RD-Connect and ERN-EURO-NMD are organising a webinar to train ERN members how to use the platform:

  • 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
  • Register here

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.

For more information and other webinars organised by RD-Connect check this document.