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Clinical-Genomics / scout

VCF visualization interface
https://clinical-genomics.github.io/scout
BSD 3-Clause "New" or "Revised" License
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Option to include genes not in panels when filtering variants on HPO terms or gene names #2762

Open mhkc opened 3 years ago

mhkc commented 3 years ago

For some types of analysis, for example trio, its common practice for our clinicians to base their analysis not on gene panels but on phenotypes. This because in trio analysis are very custom and often contains unique phenotype. The current model where you can only filter on genes that are in the panels associated to a case makes these analysis very cumbersome.

It would be better to either restore the previous functionality where you could filter on any gene, or make the filtering behavior customizable on a per institute basis. To warn the user that gene A, B and C are not part of a gene panel is very useful and should be kept.

mhkc commented 3 years ago

My idea is to have a per-institute setting where you toggle to allow filtering on genes that are not in the panels associated with a case.

dnil commented 4 weeks ago

This is effectively possible for research cases, and never asked for in Solna. Is it still an issue for you, or has the panel upload situation converged a bit?