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The following axioms should be created/updated from OMIM:
'has material basis in germline mutation in' some GENE
gene-to-disease information from OMIM, based on rules discussed HERE (need to be updated, add document with requirements)
the pipeline should proceed as follow (based on discussions on 2024-06-05 technical call)
remove all OMIM source annotations for axioms'has material basis in germline mutation in' some GENE
based on OMIM EquivalentTo x-ref, add OMIM xref as source to existing 'has material basis in germline mutation in' some GENE axioms
based on OMIM EquivalentTo x-ref, create new 'has material basis in germline mutation in' some GENE axioms, with OMIM x-ref as source when no axioms exist.
FOR THE FIRST PASS: create a report with 'has material basis in germline mutation in' some GENE axiom which
- do not have a source (curator to review and either remove the axiom or add source)
- does have a source different from OMIM (curator to review)
QC checks:
report diseases that have more than one 'has material basis in germline mutation in' some GENE" axiom
report disease with 'has material basis in germline mutation in' some GENE axiom without a source annotation
The text was updated successfully, but these errors were encountered:
The following axioms should be created/updated from OMIM:
'has material basis in germline mutation in' some GENE
gene-to-disease information from OMIM, based on rules discussed HERE (need to be updated, add document with requirements)
the pipeline should proceed as follow (based on discussions on 2024-06-05 technical call)
'has material basis in germline mutation in' some GENE
'has material basis in germline mutation in' some GENE
axioms'has material basis in germline mutation in' some GENE
axioms, with OMIM x-ref as source when no axioms exist.'has material basis in germline mutation in' some GENE
axiom which- do not have a source (curator to review and either remove the axiom or add source)
- does have a source different from OMIM (curator to review)
QC checks:
'has material basis in germline mutation in' some GENE"
axiom'has material basis in germline mutation in' some GENE
axiom without a source annotationThe text was updated successfully, but these errors were encountered: