20
Sep
2023EJP RD Variant Prioritization and Enrichment for Rare Diseases Workshop
GENERAL INFORMATION Participants will learn the fundamentals of Whole Exome Sequencing (WES) including terminology, pre and post-alignment processing, variant calling using Genome Analysis Toolkit (GATK) pipeline and annotation/filtration/interpretation of the variants. Moreover, Polygenic Risk Score…
- 09:00 - 17:30 (22 September 2023)
- Istanbul, Turkey
21
Jun
2023Paediatric Expert Patients Training Workshop
Are you an adolescent aged from 12 to 18 years old with an interest in health, biomedical research, healthcare, and children rights?Are you a patient with a chronic rare disease willing to get the skills…
- 09:00 - 17:00 (23 June 2023)
- Barcelona, Spain
12
Jun
2023ERN biological samples in Rare Diseases research: Added value and usefulness
General informationThe Rare disease (RD) field benefits from national and international multidisciplinary collaborations to face the challenges in research. Access to infrastructures, collaborative research and policy platforms, virtual platforms for data integration are some examples…
- 14:00 - 12:00 (14 June 2023)
- Madrid, Spain
03
Apr
2023Training on strategies to foster solutions of undiagnosed rare disease cases
Registration is now open here for the reserve list only until 2 March 2023.An e-mail will be sent by 3 March 2023 to the selected participants. General information The “Training on strategies to foster solutions of undiagnosed…
- 09:30 - 16:30 (5 April 2023)
- Rome, Italy