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Currently these are presented in SMA CN tab in Scout.
If we could get them into SV VCF format, then the geneticists could work with these variants using existing tools.
This might concretely mean implementing a script doing the conversion and adding that into the ol' wgs downstream of the SMN[12] copy number caller step.
We would also need to check / coordinate with the geneticists whether all needed info then is presented in Scout.
The text was updated successfully, but these errors were encountered:
Currently these are presented in SMA CN tab in Scout.
If we could get them into SV VCF format, then the geneticists could work with these variants using existing tools.
This might concretely mean implementing a script doing the conversion and adding that into the ol' wgs downstream of the SMN[12] copy number caller step.
We would also need to check / coordinate with the geneticists whether all needed info then is presented in Scout.
The text was updated successfully, but these errors were encountered: