Open kkrysiak opened 6 years ago
We need to discuss this as a group since this is a complex thing.
One suggestion would be the number of individuals with a variant. This would translate well for clinical and case study levels for both germline and somatic contexts.
Interesting use cases.
This field, could be called study size
It was also proposed that we could have a list of counts
(study size, number of families, treatment arm size, etc.) and each fo these could have a count assigned.
This issue is relevant for questions of associating HPO phenotypes to occurrences of the mutation, in a family, or down to the individual patient. It also might associate occurrences of the mutation with a VHL phenotype in general with no phenotype at all.
A discussion relevant to this will occur in July 2020 with the VHL group.
@kkrysiak can you please provide more details for this issue?