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monarch-initiative / monarch-phenote

stub for monarch phenote
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Add a variant-phenotype entry form #26

Open cmungall opened 8 years ago

cmungall commented 8 years ago

This conforms to the simple pattern here. https://github.com/geneontology/noctua/issues/150

Source will be a variant entity, Object will be phenotype (as per disease-phenotype form)

This will need a small amount of upstream work to load the right entities into the OWL. We will use the clinvar ttl, but pun it such that we have variant classes that can be instantiated in the model

mbrush commented 8 years ago

Two questions re: the statement "We will use the clinvar ttl, but pun it such that we have variant classes that can be instantiated in the model"

  1. How will the clinvar.ttl be used exactly?
  2. Confused by the statement about punning - variants in Monarch/DIPper models are already represented as instances (of the GENO:000002 ! 'variant allele' class). Is the proposal to pun in the direction of owl individual -> owl class? i.e. pun variant instance IRIs as class IRIs (and then phenote will automate creation of instances of these classes)?