Merge pull request #710 from monarch-initiative/develop

merge Develop into main

docs/externally-managed-content.md

@@ -1,4 +1,4 @@
-## Externally managed content
+## Externally managed content (EMC)
 
 Externally managed content is content that is provided by trusted providers and is merged in _unreviewed_. Currently, we support three types of externally managed content:
 
@@ -13,6 +13,37 @@ Externally managed content is content that is provided by trusted providers and
 1. External provider provides a TSV. (Ideally they use the same template that NORD uses - see `src/ontology/external/nord.robot.tsv`).
 2. We pull it in and turn it into a ROBOT template and transform it to owl.
 
+### QC system
+
+We have implemented a full QC system for EMC here: https://github.com/monarch-initiative/mondo-ingest/pull/628.
+
+It works like this:
+
+1. A check is added to `src/ontology/config/robot_report_external_content.txt` (this is a standard ROBOT profile.txt). This check _must_ confirm to the ROBOT report formatting requirements, e.g. return exactly three variables (`?entity`, `?propert`, `?value`).
+2. The QC system first transforms the externally managed content to OWL, then it tests it against the ROBOT report, then it removes _any_ ID - value combination identified to to be problematic by the QC. Note: Right now all EMCs are checked at once, and the QC system cant know for sure where which value has originally come from. This is usually a reasonable assumption, but may occassionally lead to false positives, i.e. where a value that is correct in one source was indeed correct in another. The most likely scenario is that two sources say "X" is a synonym, but source A says "narrow" and source B says "broad" - the QC system will remove them both as it cannot distinguish from the check alone which is the offending one.
+3. After the QC system has removed all of the faulty values, it writes them to a report for the stakeholders which is shared in the src/ontology/external directory for each EMC source. It also produces a variant of the EMC file which is labelled "processed".
+4. The "processed" variant should be used by the the Mondo pipeline when updating EMC.
+
+### Adding a new EMC to Mondo ingest
+
+1. Add the id of the EMC to the `EXTERNAL_FILES` variable, e.g.
+   ```
+   EXTERNAL_FILES = \
+	efo-proxy-merges \
+	mondo-new
+   ```
+2. Add a goal that handles the update (add helpful comments where the information is pulled from for future souls), e.g:
+   ```
+   ###### ClinGen #########
+
+   # Managed in Google Sheets:
+   # https://docs.google.com/spreadsheets/d/1JAgySABpRkmXl-8lu5Yrxd9yjTGNbH8aoDcMlHqpssQ/edit?gid=637121472#gid=637121472
+
+   $(EXTERNAL_CONTENT_DIR)/mondo-clingen.robot.tsv:
+      wget "https://docs.google.com/spreadsheets/d/e/2PACX-1vRiYDV1n1nDuJOgnlFx6DsYGyIGlbgI1HeDzI740OgmOKYy2RCCyBqLHiBh-IMadYXjVglsxDPypArh/pub?gid=637121472&single=true&output=tsv" -O $@
+   ```
+3. Add the active columns in that file to `src/scripts/post_process_externally_managed_content.py`, to the method `def _get_column_of_external_source_related_to_qc_failure(qc_failure, erroneous_row, external)`. Only add the columns which actually contain values, like xrefs and synonyms, not the columns which contain provenance information.
+
 ### Related issues and PRs:
 
 - [Issue: Represent Externally Managed Content in the Mondo Ingest](https://github.com/monarch-initiative/mondo-ingest/issues/439)

src/mappings/mondo-nando.sssom.tsv

@@ -15,7 +15,7 @@
 # mapping_provider: MONDO:NANDO
 # mapping_set_description: This mapping set is manually curated by the NANDO team at
 #   nanbyodata.jp.
-# mapping_set_id: https://w3id.org/sssom/mappings/204f6b4a-3c0d-47c7-998e-1668ceaa99da
+# mapping_set_id: https://w3id.org/sssom/mappings/056ce54c-b213-4c8b-80e2-1f9d7add42e0
 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp
 subject_id	subject_label	predicate_id	object_id	object_label	mapping_justification
 MONDO:0000050	isolated congenital growth hormone deficiency	skos:closeMatch	NANDO:2200317	Congenital growth hormone deficiency	semapv:MappingInversion

src/ontology/config/robot_report_external_content.txt

@@ -0,0 +1,9 @@
+ERROR	file:tmp/mondo/src/sparql/qc/general/qc-syn-source-not-xref.sparql
+ERROR	invalid_xref
+ERROR	duplicate_scoped_synonym
+ERROR	file:tmp/mondo/src/sparql/qc/general/qc-duplicate-exact-synonym-no-abbrev.sparql
+ERROR	file:tmp/mondo/src/sparql/qc/mondo/qc-proxy-merges.sparql
+ERROR	file:tmp/mondo/src/sparql/qc/general/qc-related-exact-synonym.sparql
+ERROR	file:tmp/mondo/src/sparql/qc/mondo/qc-animal-disease-rare.sparql
+ERROR	file:tmp/mondo/src/sparql/qc/general/qc-trailing-whitespace.sparql
+ERROR	file:tmp/mondo/src/sparql/qc/mondo/qc-ordo-subset-exact-mapping.sparql

src/ontology/external/efo-proxy-merges.robot.owl

@@ -0,0 +1,27 @@
+@prefix owl: <http://www.w3.org/2002/07/owl#> .
+@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
+@prefix xml: <http://www.w3.org/XML/1998/namespace> .
+@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
+@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
+@base <http://www.w3.org/2002/07/owl#> .
+
+[ rdf:type owl:Ontology
+ ] .
+
+#################################################################
+#    Annotation properties
+#################################################################
+
+###  http://www.geneontology.org/formats/oboInOwl#hasDbXref
+<http://www.geneontology.org/formats/oboInOwl#hasDbXref> rdf:type owl:AnnotationProperty .
+
+
+###  http://www.geneontology.org/formats/oboInOwl#source
+<http://www.geneontology.org/formats/oboInOwl#source> rdf:type owl:AnnotationProperty .
+
+
+#################################################################
+#    Classes
+#################################################################
+
+###  Generated by the OWL API (version 4.5.29) https://github.com/owlcs/owlapi

src/ontology/external/gard-qc-failures.md

@@ -0,0 +1,4 @@
+
+# QC Report for gard
+
+No QC failures found.