POLR1A update

monarch-initiative · Nov 30, 2024 · 1e47be2 · 1e47be2
1 parent 38bf03f
commit 1e47be2
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Showing 27 changed files with 3,253 additions and 3,783 deletions.
diff --git a/notebooks/POLR1A/POLR1A_AFDCIN_individuals.ipynb b/notebooks/POLR1A/POLR1A_AFDCIN_individuals.ipynb
diff --git a/notebooks/POLR1A/POLR1A_HLD27_individuals.ipynb b/notebooks/POLR1A/POLR1A_HLD27_individuals.ipynb
diff --git a/notebooks/POLR1A/POLR1A_Smallwood_2023.ipynb b/notebooks/POLR1A/POLR1A_Smallwood_2023.ipynb
diff --git a/notebooks/POLR1A/input/POLR1A_AFDCIN_individuals.xlsx b/notebooks/POLR1A/input/POLR1A_AFDCIN_individuals.xlsx
diff --git a/notebooks/POLR1A/input/POLR1A_Smallwood_2023.xlsx b/notebooks/POLR1A/input/POLR1A_Smallwood_2023.xlsx
diff --git a/notebooks/POLR1A/phenopackets/PMID_28051070_Brother1203.json b/notebooks/POLR1A/phenopackets/PMID_28051070_Brother1203.json
@@ -7,6 +7,9 @@
         "iso8601duration": "P11Y"
       }
     },
+    "vitalStatus": {
+      "status": "ALIVE"
+    },
     "sex": "MALE"
   },
   "phenotypicFeatures": [
@@ -299,7 +302,7 @@
     }
   ],
   "metaData": {
-    "created": "2024-05-08T17:55:51.389721155Z",
+    "created": "2024-11-30T09:36:52.845809936Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {
@@ -338,7 +341,7 @@
         "id": "hp",
         "name": "human phenotype ontology",
         "url": "http://purl.obolibrary.org/obo/hp.owl",
-        "version": "2024-04-26",
+        "version": "2024-08-13",
         "namespacePrefix": "HP",
         "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
       }

diff --git a/notebooks/POLR1A/phenopackets/PMID_28051070_Brother2204.json b/notebooks/POLR1A/phenopackets/PMID_28051070_Brother2204.json
@@ -7,6 +7,9 @@
         "iso8601duration": "P6Y6M"
       }
     },
+    "vitalStatus": {
+      "status": "ALIVE"
+    },
     "sex": "MALE"
   },
   "phenotypicFeatures": [
@@ -317,7 +320,7 @@
     }
   ],
   "metaData": {
-    "created": "2024-05-08T17:55:51.390962839Z",
+    "created": "2024-11-30T09:36:52.846722126Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {
@@ -356,7 +359,7 @@
         "id": "hp",
         "name": "human phenotype ontology",
         "url": "http://purl.obolibrary.org/obo/hp.owl",
-        "version": "2024-04-26",
+        "version": "2024-08-13",
         "namespacePrefix": "HP",
         "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
       }

diff --git a/notebooks/POLR1A/phenopackets/PMID_36917474_Patient1.json b/notebooks/POLR1A/phenopackets/PMID_36917474_Patient1.json
@@ -7,6 +7,14 @@
         "iso8601duration": "P16Y6M"
       }
     },
+    "vitalStatus": {
+      "status": "DECEASED",
+      "timeOfDeath": {
+        "age": {
+          "iso8601duration": "P16Y6M"
+        }
+      }
+    },
     "sex": "MALE"
   },
   "phenotypicFeatures": [
@@ -320,7 +328,7 @@
     }
   ],
   "metaData": {
-    "created": "2024-05-08T17:55:51.392045021Z",
+    "created": "2024-11-30T09:36:52.848232030Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {
@@ -359,7 +367,7 @@
         "id": "hp",
         "name": "human phenotype ontology",
         "url": "http://purl.obolibrary.org/obo/hp.owl",
-        "version": "2024-04-26",
+        "version": "2024-08-13",
         "namespacePrefix": "HP",
         "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
       }

diff --git a/notebooks/POLR1A/phenopackets/PMID_36917474_Patient2.json b/notebooks/POLR1A/phenopackets/PMID_36917474_Patient2.json
@@ -7,6 +7,9 @@
         "iso8601duration": "P2Y10M"
       }
     },
+    "vitalStatus": {
+      "status": "ALIVE"
+    },
     "sex": "FEMALE"
   },
   "phenotypicFeatures": [
@@ -280,7 +283,7 @@
     }
   ],
   "metaData": {
-    "created": "2024-05-08T17:55:51.393130064Z",
+    "created": "2024-11-30T09:36:52.848973035Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {
@@ -319,7 +322,7 @@
         "id": "hp",
         "name": "human phenotype ontology",
         "url": "http://purl.obolibrary.org/obo/hp.owl",
-        "version": "2024-04-26",
+        "version": "2024-08-13",
         "namespacePrefix": "HP",
         "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
       }