Stream: genomics
Topic: structural variant change type
Patrick Werner (Jun 06 2019 at 15:06):
related to: https://chat.fhir.org/#narrow/stream/179197-genomics/topic/chromosome-copy-number-change-type
For structural variants we have the following ValueSet: del, ins, dup, inv, cnv, bnd.
Same question as with CNVs: do we need/want a dedicated component for this change type? Or do we extend chromosome-copy-number-change-type to capture CNV and SV change types.
Last option would be merging Dna change type and chromosome-copy-number-change-type with a ValueSet covering the needs of all three usages
Bob Dolin (Jun 06 2019 at 21:45):
I'd lean towards seeing if we can merge DNA change type and chromosome copy number change type.
Kevin Power (Jun 07 2019 at 20:54):
I don’t have a good answer for ya but to be honest - we will really need to examine other “variant” types. I think it’s likely we have missed something in all of our “box removal” frenzy.
Last updated: Apr 12 2022 at 19:14 UTC
