From 5-6 March 2020 the Solve-RD Annual Meeting took place in Barcelona, Spain, hosted by our partner CNAG-CRG. Almost 100 participants from Solve-RD partners, associated ERNs and Undiagnosed Disease Networks attended the meeting.
The meeting was a great success and we have made important steps forward! The best news is that we already solved 130 cases by the re-analysis of unsolved exomes and re-analysis is well under way now.
5-6 March 2020, Barcelona, Spain
The next Solve-RD Annual Meeting will take place from 5-6 March 2020 in Barcelona, Spain. It will be hosted by Solve-RD partner CNAG-CRG at the Parc Científic de Barcelona (PCB).
Registration and poster abstract submission have been closed. Please get in touch with Birte if you have any further question.
Further information on the meeting venue, transport in Barcelona, accommodation, and costs can be found in the general information document.
The agenda can be found here.
Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. In December 2019 we organised two webinars: one on basic analysis using GPAP and the other on advanced platform features. Both webinars are now online:
Solve RD webinar on basic analysis using the RD-Connect Genome-Phenome Analysis Platform (GPAP)
Solve RD webinar on advanced features of the RD-Connect Genome-Phenome Analysis Platform (GPAP)
For more info see here.
Solve-RD will host two webinars on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) in December 2019. The first webinar focuses on basic analysis and the second webinar focuses on advanced platform features. Everyone who is interested is invited to register and join the webinars.
Webinar 1: RD-Connect GPAP webinar- basic analysis
Time: Monday, 9 Dec 2019; 2-3 pm CET
Speaker: Steven Laurie (CNAG, Barcelona)
Audience: Solve-RD partners that have no (or very few) previous experience analysing (filtering and prioritising) genomic data through the GPAP. Users will learn how to filter and prioritise variants (SNVs, InDels, and CNVs) using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (OMIM, ORDO, HPO, PanelApp, Reactome), how to interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser, Mendelian.co, ClinVar, and Varsome.
Registration link: https://zoom.us/webinar/register/WN_9zsilWqnTKu6r5W8ZD_lNg
Webinar 2: RD-Connect GPAP webinar- advanced platform features
Time: Monday, 16 Dec 2019; 2-3 pm CET
Speaker: Leslie Matalonga (CNAG, Barcelona)
Audience: Solve-RD partners that already have previous experience analysing (filtering and prioritising) genomic data through the GPAP and/or have attended the workshop on basic analysis. Users will learn how to use advanced features integrated in the system such as: i) Matchmaker exchange, ii) search for specific gene/variants across all samples, iii) TAG and share variants / queries, iv) create specific cohorts based on phenotypic data and v) post analysis management (analysis status and solved cases).
Registration Link: https://zoom.us/webinar/register/WN_TZochyQ6TSmIQ8whE7O_LQ
