Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Snomed mapping analysis draft #10389

Draft
wants to merge 1 commit into
base: master
Choose a base branch
from
Draft
Show file tree
Hide file tree
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
8 changes: 8 additions & 0 deletions src/ontology/config/hp-snomed.sssom.yml
Original file line number Diff line number Diff line change
@@ -0,0 +1,8 @@
license: "https://creativecommons.org/publicdomain/zero/1.0/"
mapping_set_id: http://purl.obolibrary.org/obo/hp/mappings/hp-snomed
curie_map:
rdfs: "http://www.w3.org/2000/01/rdf-schema#"
owl: "http://www.w3.org/2002/07/owl#"
SNOMED: "http://snomed.info/id/"
HP: http://purl.obolibrary.org/obo/HP_
orcid: "https://orcid.org/"
14 changes: 14 additions & 0 deletions src/ontology/config/inverse-map.yml
Original file line number Diff line number Diff line change
@@ -0,0 +1,14 @@
inverse_predicate_map:
skos:closeMatch: skos:closeMatch
skos:relatedMatch: skos:relatedMatch
skos:exactMatch: skos:exactMatch
skos:narrowMatch: skos:broadMatch
skos:broadMatch: skos:narrowMatch
semapv:crossSpeciesExactMatch: semapv:crossSpeciesExactMatch
semapv:crossSpeciesNarrowMatch: semapv:crossSpeciesBroadMatch
semapv:crossSpeciesBroadMatch: semapv:crossSpeciesNarrowMatch
semapv:crossSpeciesCloseMatch: semapv:crossSpeciesCloseMatch
owl:equivalentClass: owl:equivalentClass
owl:sameAs: owl:sameAs
rdfs:subClassOf: sssom:superClassOf
sssom:superClassOf: rdfs:subClassOf
3 changes: 2 additions & 1 deletion src/ontology/config/prefixes.csv
Original file line number Diff line number Diff line change
Expand Up @@ -227,4 +227,5 @@ ICD10CM,http://purl.bioontology.org/ontology/ICD10CM/
ICD10WHO,https://icd.who.int/browse10/2019/en#/
OMIMPS,https://omim.org/phenotypicSeries/PS
OMIM,https://omim.org/entry/
Orphanet,http://www.orpha.net/ORDO/Orphanet_
Orphanet,http://www.orpha.net/ORDO/Orphanet_
SNOMED, http://snomed.info/id/
27 changes: 27 additions & 0 deletions src/ontology/hp.Makefile
Original file line number Diff line number Diff line change
Expand Up @@ -577,3 +577,30 @@ $(TMPDIR)/hp-%-merged.owl: hp-base.owl tmp/%.owl

mappings:
$(MAKE_FAST) ../mappings/hp-snomed.lexmatch.sssom.tsv

SNOMED_HPO=https://docs.google.com/spreadsheets/d/e/2PACX-1vTHNmZFJJ0zExDORNE1rekVfeSny1Bv5_q6XXAFeuBkLHbeucokTPvjuTBZlRUbHyuAm26PQlzkMBAH/pub?gid=488628125&single=true&output=tsv
tmp/hp-snomed-external.sssom.tsv:
wget "$(SNOMED_HPO)" -O $@

tmp/hp-snomed.sssom.tsv: tmp/hp-snomed-external.sssom.tsv
sssom parse $< -m config/hp-snomed.sssom.yml -o $@

tmp/snomed-hp.sssom.tsv: tmp/hp-snomed.sssom.tsv
sssom invert $< --inverse-map config/inverse-map.yml -o $@

tmp/snomed-hp.sssom.ttl: tmp/snomed-hp.sssom.tsv
sssom convert $< -O owl -o $@

tmp/snomed.owl: tmp/snomed-hp.sssom.ttl
$(ROBOT) merge -i tmp/snomed-0324.owl -i tmp/hp-snomed.sssom.ttl convert -f owl -o $@

tmp/hp-snomed.basic-validation.txt: tmp/snomed.db
runoak -i $< validate-mappings -o $@

tmp/hp-snomed.llm-validation.txt: tmp/snomed.db hp.obo
runoak -i llm:$< validate-mappings --adapter-mapping hp=hp.obo > $@

validate-mappings:
make IMP=false MIR=false PAT=false tmp/hp-snomed.basic-validation.txt
make IMP=false MIR=false PAT=false tmp/hp-snomed.llm-validation.txt

Loading