Alex H. Wagner, PhD
Alex H. Wagner, PhD
Shirley Li mentioned COSMIC on the VICC General Call today; not seeing the link on this thread, so adding it here to track: https://cancer.sanger.ac.uk/cosmic/fusion Also mentioned gnomAD fusions, which we...
👋 thanks for capturing the above. To provide some clarifying details, we want to be better at documenting our computational cross-mapping work. This is easy for our disease normalizer; we...
@keilbeck, I'm having trouble discerning the difference between copy_number_increase and feature_amplification. When would I use one and not the other?
One thing I would add to this proposal is a clear definition of what constitutes low-level gain vs amplification. I have heard amplification loosely defined as >=8 allele copies in...
@Mrinal-Thomas-Epic this is great, thanks. Would you be interested in drafting the schema change?
@larrybabb the `members` array has property `ordered: false` ([here](https://github.com/ga4gh/vrs/blob/c9335130b222d53bf8b7b3f111ace7f12aaef911/schema/vrs-source.yaml#L265)), indicating that the order of elements in the `Genotype.members` array is **not** meaningful. The consequence of this is that when creating...
@reece and @larrybabb there are two concerns here. Tagging @andreasprlic because this is an important technical implementation discussion he should also weigh in on. ## Concern 1. we need to...
Separating out these distinct concerns between this thread and #411. Addressing here: > 1. When an array contains items with no specified ordering and are also un-identifiable (no computed digest)...
On 11/7 leads call, @larrybabb @andreasprlic and @ahwagner agreed that sorting on digests (even for non-identifiable objects) is the more consistent approach. **Proposed Resolution:** digest ALL JSON Objects in arrays...
Implemented in #409