diff --git a/examples/clinvar_data/conditions/hl.jsonc b/examples/clinvar_data/conditions/hl.jsonc index 0eace4f3..303c1021 100644 --- a/examples/clinvar_data/conditions/hl.jsonc +++ b/examples/clinvar_data/conditions/hl.jsonc @@ -48,14 +48,20 @@ */ { "ns_hl": { - "id": "", + "id": "", // traitset ID from ClinVar "label": "Nonsyndromic genetic hearing loss", "type": "Condition", "traits": [ { - "id": "https://www.ncbi.nlm.nih.gov/medgen/CN043648/", + "id": "", // trait ID from ClinVar "type": "Disease", // Disease, Phenotype(Finding), Trait .... - "label": "Nonsyndromic genetic hearing loss" + "label": "Nonsyndromic genetic hearing loss", + "mappings": { + "system": "https://www.ncbi.nlm.nih.gov/medgen/", + "code": "CN043648", + "label": "Nonsyndromic genetic hearing loss", + "relation": "exactMatch" + } } ] }, diff --git a/examples/clinvar_data/submitted_assertions/208366_scvs.jsonc b/examples/clinvar_data/submitted_assertions/208366_scvs.jsonc index 82369f34..5975b298 100644 --- a/examples/clinvar_data/submitted_assertions/208366_scvs.jsonc +++ b/examples/clinvar_data/submitted_assertions/208366_scvs.jsonc @@ -1,3 +1,5 @@ +/* example response for clinicalgenome.org/variationSCVs/208366 */ + /* #1 SCV SCV : SCV001245167.1 @@ -33,9 +35,13 @@ "classifications": { "likpath": { // discussion #13: need a system for clinvar_classifications terms? - "system": "https://.../clinicalgenome.org/clinvar_classifications/", - "id": "100-1", - "label": "Likely Pathogenic" + "id": "clinvar.lp", + "label": "Likely Pathogenic", + "mappings": { + "code": "acmg15.lp", + "label": "Likely Pathogenic (ACMG 2015)", + "system": "https://clinicalgenome.org/clinvar_classifications/" + } }, "deleterious": { // is this the equivalent of a blank node in JSON-LD?