Clinical-Genomics / cg

Glue between Clinical Genomics apps
8 stars 2 forks source link

Concise re-analysis of old cases #3318

Closed peterpru closed 2 months ago

peterpru commented 3 months ago

As a Bioinformatician, I want to reduce re-analysis time of old cases, So that load on Hasta caused by re-analysis is reduced.

As a Clinicians, I want to receive my re-analysis cases faster, So that the case can be processed in a shorter amount of time.

Acceptance Criteria

Notes

During the ESHG2024 conference a re-analysis solution was presented where bam/cram or VCF files were used as input, where the main change to the analysis was an updated OMIM panel and updated databases. For CG this would speed up the data analysis, and hopefully reduce the number of errors which are often encountered by production when dealing with old cases.

Implementation plan

ChrOertlin commented 3 months ago

added to refinement meeting on 19-06-2024

Vince-janv commented 2 months ago

For this to be done, there first needs to be a way to start the pipelines we run at CG from certain checkpoints. I suggest creating an issue for this in the project-planning repo as it needs a lot of coordination between multiple teams. Closing here for now