Looking at how we are capturing 'susceptibility' aka genetic risk factors in the DO.
We annotate the OMIM susceptibility terms with 'contributes to condition'
On the DO website, these annotations are viewable on the 'OMIM susceptibility' records.
I would like to augment this work, to create annotations on the disease record, that points to the 'OMIM susceptibility' terms.
I've come up with this plan:
(1) A query to identify 'OMIM susceptibility' terms that have, SubClassOf:
‘contributes to condition’ some ‘disease’
(2) capture the 'disease name' and 'omim susceptibility terms'
(3) create new annotations for those 'disease' terms:
'has major susceptibility factor' some 'OMIM susceptibility term'
Initially this would be a bulk update.
I would then like to have a mechanism in place that creates these 'disease annotations', as part of our builds.
Looking at how we are capturing 'susceptibility' aka genetic risk factors in the DO.
We annotate the OMIM susceptibility terms with 'contributes to condition' On the DO website, these annotations are viewable on the 'OMIM susceptibility' records.
I would like to augment this work, to create annotations on the disease record, that points to the 'OMIM susceptibility' terms.
I've come up with this plan:
(1) A query to identify 'OMIM susceptibility' terms that have, SubClassOf: ‘contributes to condition’ some ‘disease’
(2) capture the 'disease name' and 'omim susceptibility terms'
(3) create new annotations for those 'disease' terms: 'has major susceptibility factor' some 'OMIM susceptibility term'
Initially this would be a bulk update. I would then like to have a mechanism in place that creates these 'disease annotations', as part of our builds.