Wed-Fri, 22-24 February 2023 in Barcelona, Spain (and partially online)
We invite all partners who submitted RNAseq samples in Solve-RD and those who are involved in analysing and/or interpreting RNAseq data to attend the Solvathon!
Registration for this meeting has been closed.
What it is: 3 days hands-on course to analyse RNA-seq data in the context of rare disorders.
Goal: instruct ERNs how to analyse and interpret the different results derived from RNA-seq, in combination with variants from DNA, with the aim of diagnosing cases.
Program: On the first two days, we will have a 1-2 h tutorial in the mornings on how to analyse and interpret results from i) aberrant expression and splicing in combination with variants from DNA, ii) differential expression and alternative splicing and iii) gene fusion (to be confirmed). These tutorials can also be online. The rest of the day, groups with participants mixed from the different ERNs analyse and discuss their cases together. This will allow the members from the ERNs to share their experiences and learn from other cases and diseases. The participants from the DATFs can go around the groups giving input, solving doubts, etc. On the third day, the ERNs present a summary of their samples and a couple of case studies (can also be joined online), followed by a wrap-up and discussion on how we could improve as well as next steps.
Participants: Representatives from the RNAseq, SNV/indel and CNV working groups, representatives from ERNs/Solve-RD partners who contributed samples and are involved in the analysis/interpretation.
The Solvathon has been organised by Solve-RD with support from GHGA partners.