Matthew Brush

see also the 'allelic requirement' and 'mutation consequence' slides in the deck here for other requirements: https://www.clinicalgenome.org/site/assets/files/2757/fitzpatrick_ddg2p.pdf . . .has some concepts not currently in GENO, but related to allele...

I added the terms as requested, so IRIs are now available: chromosomal inheritance - GENO:0000969 chromosomal deletion inheritance - GENO:0000970 chromosomal duplication inheritance - GENO:0000971 chromosomal rearrangement inheritance - GENO:0000972...

@sbello GENO should cover all of these entities - although there are some nuances around how 'fish' and 'constructs' might map to concepts in GENO. We should discuss to ensure...

An example of a very specific modeling requirement from @dosumis related to transgene representation to accommodate data from the VirtualFlyBrain and Flybase projects. Essentially: 1. Transgene representation needs to account...

Yes, good catch. The slides you looked at are likely an early iteration where we allowed for 'promiscuous' phenotype propagation. Specifically, in cases where phenotypes were annotated to 'complex' genotypes...

possibly relevant to #22 and #2

Yes, lets do that, and aim for late September. The next few weeks are booked pretty solid for me.

Thanks for the feedback Melissa. And yes, the participates_in example above was just meant to indicate some type of participation relation is needed if we frame inheritance types as processes....

Interesting examples to inform modeling from ClinGen Modeling efforts here: http://datamodel.clinicalgenome.org/development/assertion/conceptual/condition_inheritance.html

To consider: Mode of Inheritance: Def = the disposition of a trait or condition (phenotype or disease) to manifest in an organism when a particular allelic complement is present in...