Add example

ga4gh-beacon · Jun 15, 2023 · 56c4a40 · 56c4a40
1 parent b7a0060
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diff --git a/...s/json/beacon-v2-default-model/genomicVariations/examples/genomicVariant-MID-example.json b/...s/json/beacon-v2-default-model/genomicVariations/examples/genomicVariant-MID-example.json
@@ -95,6 +95,17 @@
                     "label": "hypercholesterolemia, autosomal dominant, 3"
                 }
             }
+        ],
+        "pathogenicityPredictions": [
+            {
+                "annotatedWith": {
+                    "toolName": "Combined Annotation-Dependent Depletion (CADD)",
+                    "version": "v1.6"
+                },
+                "effect": {
+                    "id": "phred_score:0.381"
+                }
+            }
         ]
     },
     "variation": {

diff --git a/...ls/src/beacon-v2-default-model/genomicVariations/examples/genomicVariant-MID-example.yaml b/...ls/src/beacon-v2-default-model/genomicVariations/examples/genomicVariant-MID-example.yaml
@@ -54,6 +54,12 @@ variantLevelData:
         id: MONDO:0011369
         label: hypercholesterolemia, autosomal dominant, 3
       clinicalRelevance: uncertain significance
+  pathogenicityPredictions:
+    - annotatedWith:
+        version: v1.6
+        toolName: Combined Annotation-Dependent Depletion (CADD)
+      effect:
+        id: phred_score:0.381
 frequencyInPopulations:
   - source: gnomaD Genomes
     sourceReference: https://gnomad.broadinstitute.org/