Solvathon on lr-WGS and OGM analysis

Mon-Wed, 19-21 February 2024 in Nijmegen, the Netherlands

Goal: Instruct Solve-RD partners of all ERNs on how to analyse and interpret the results derived from LR-WGS and Optical Genome Mapping (OGM) with the aim of diagnosing cases.

Analysis cohort: All Solve-RD LR-WGS experiments and OGM experiments analysed by the above mentioned date.

Audience: All Solve-RD partners that have contributed samples for LR-WGS and/or OGM. The number of on-site participants is limited and we might have to select participants based on the number of experiments for interpretation. We will facilitate online participation that is open for all interested Solve-RD participants at least for the theoretical part.

Goal: 3 days hands-on course to instruct ERNs how to analyse and interpret the different results derived from LR-WGS and optical genome mapping (OGM), with the aim of diagnosing cases.

Participants: Representatives from the LR-WGS and OGM working groups, representatives from ERNs/Solve-RD partners who contributed samples and are involved in the analysis/interpretation.

Proposed agenda:

Monday, 19 Feb 2024
9-11 theory session (LRS)
11-17 hands on work and interpretation (LRS)

Tuesday, 20 Feb 2024
9-11 theory session (OGM)
11-17 hands on work and interpretation (OGM+LRS)

Wednesday, 21 Feb 2024
9-11 hands on work and interpretation (OGM+LRS)
11-12:30 solved cases presentation and closing remarks
12:30 end /departure

Further details (agenda, timelines and pre-registration form) will be shared in due time.

Please get registered and safe the date in your calendar!
Deadline for registration: 10 January 2024.

Please note: on-site participants will be selected based on the number of submitted samples and data to analyse. You will hear back from us by 15 January 2024.

We plan to enable online participation for the theory sessions and will share the presentations and recordings to provide resources and guidance for Solve-RD partners that cannot attend live.