bbglab / intogen-plus

a framework for automatic and comprehensive knowledge extraction based on mutational data from sequenced tumor samples from patients.
https://www.intogen.org/search
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IntOGen-plus | Add helthcheck for regions #23

Open FedericaBrando opened 5 months ago

FedericaBrando commented 5 months ago

Catching errors in the building of regions can be hard. Sometime we do a full run of IntOGen but we realize at the end that the results are missing some important genes, most of the times these errors comes from the fact that something went wrong in the building fo the regions.

In order to overcome this problem a solution could be add an health check in the build region step where it checks if every genes in CGC are covered by the regions (MANE transcript have a small portion of CGC genes not covered - we could take this into account)