Stream: genomics
Topic: affected genes/exons
Patrick Werner (Jun 06 2019 at 09:54):
Our lab reports the affected genes and/or exons for CNVs an SVs, do we see a need to include this to the IG?
Bob Dolin (Jun 06 2019 at 21:57):
I'd say most important would be to represent the range as accurately as possible, so that folks with a knowledgebase can resolve on their own. From there, I can see how it could be helpful to report affected genes and/or exons - but it could be a long list...
Kevin Power (Jun 07 2019 at 21:02):
I vaguely remember some free text component that could be used, but I can’t see it on the IG now (looking from my phone so might be missing it)
Patrick Werner (Jul 17 2019 at 09:55):
I'd say most important would be to represent the range as accurately as possible
i agree, but for reports in a clinical environment you want to transport the affected genes explicitly as hospitals don't have the possibility to lookup these affected genes.
To me this would be a component in obs-variant.
Just putting this into gene studied ID would be semantically wrong.
Last updated: Apr 12 2022 at 19:14 UTC
