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AIDAVA-DEV / AIDAVA-Reference-Ontology

AIDAVA Reference Ontology
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mutations #70

Open SarehAghaei opened 6 months ago

SarehAghaei commented 6 months ago

In MUG data, there are several columns refering specific genetic mutations or alterations, e.g., EGFR_L858R or EGFR_INS20 in MKONTUDO_MOLEKULARESPROFIL.

EGFR_L858R Description: https://www.mycancergenome.org/content/alteration/egfr-l858r/ EGFR_INS20 Description: https://www.mycancergenome.org/content/alteration/egfr-exon-20-insertion/

could you please provide some information how these terms can be modeled and mapped (in G2)?

SarehAghaei commented 6 months ago

@ Stefan: Does snomed include a concept referring to EGFR_INS20?