aw-lb example updates

ga4gh · Aug 22, 2023 · b3b4caf · b3b4caf
1 parent 3e17d91
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Showing 2 changed files with 18 additions and 6 deletions.
diff --git 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
@@ -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?