Medgen updates

.gitignore

@@ -1,20 +1,22 @@
 # Standard
 dev/
 data/cache/
+output/
 __pycache__/
 .idea/
 .DS_Store
 .env
 
 # Specialized
+/*.json
 /*.obo
 /*.owl
 /*.tmp
 /*.tsv
 /fetch
 /ftp.ncbi.nlm.nih.gov/
-/release/
 *ignore/
+.ipynb_checkpoints/
 _archive/
+release/
 tmp/
-.ipynb_checkpoints/

README.md

@@ -9,6 +9,7 @@ On MacOS, (3) and (4) should be available without the need for installation.
 
 ## Setup
 1. Give permission to run Perl: `chmod +x ./bin/*.pl`
+2. Install Python dependencies: `pip install -r requirements.txt`
 
 ## Running the ingest
 Run: `make all`

config/medgen.sssom-metadata.yml

@@ -0,0 +1,21 @@
+creator_id: 0000-0002-2906-7319
+curie_map:
+  GTR: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GTR/
+  HP: http://purl.obolibrary.org/obo/HP_
+  MESH: http://identifiers.org/mesh/
+  MONDO: http://purl.obolibrary.org/obo/MONDO_
+  MEDGEN: http://purl.obolibrary.org/obo/MEDGEN_
+  MEDGENCUI: http://purl.obolibrary.org/obo/MEDGENCUI_
+  NCIT: http://purl.obolibrary.org/obo/NCIT_
+  OMIM: https://omim.org/entry/
+  Orphanet: http://www.orpha.net/ORDO/Orphanet_
+  SCTID: http://identifiers.org/snomedct/
+  UMLS: http://purl.obolibrary.org/obo/UMLS_
+  oboInOwl: http://www.geneontology.org/formats/oboInOwl#
+  owl: http://www.w3.org/2002/07/owl#
+  rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns#
+  rdfs: http://www.w3.org/2000/01/rdf-schema#
+  semapv: https://w3id.org/semapv/
+  skos: http://www.w3.org/2004/02/skos/core#
+  sssom: https://w3id.org/sssom/
+license: http://w3id.org/sssom/license/unspecified

makefile

@@ -2,38 +2,53 @@
 # Running `make all` will run the full pipeline. Note that if the FTP files have already been downloaded, it'll skip
 # that part. In order to force re-download, run `make all -B`.
 .DEFAULT_GOAL := all
-.PHONY: all build stage stage-%
+.PHONY: all build stage stage-% analyze clean deploy-release
 
 OBO=http://purl.obolibrary.org/obo
 PRODUCTS=medgen-disease-extract.obo medgen-disease-extract.owl
 TODAY ?=$(shell date +%Y-%m-%d)
 VERSION=v$(TODAY)
 
-all: build stage
-build: $(PRODUCTS)
+all: build stage clean analyze
+# analyze: runs more than just this file; that goal creates multiple files
+analyze: output/medgen_terms_mapping_status.tsv
+build: $(PRODUCTS) medgen.sssom.tsv
 stage: $(patsubst %, stage-%, $(PRODUCTS))
-	mv medgen.obo release/
-stage-%: % | release/
-	mv $< release/
+	mv medgen.obo output/release/
+	mv medgen.sssom.tsv output/release/
+stage-%: % | output/release/
+	mv $< output/release/
+clean:
+	rm medgen.obographs.json
+	rm uid2cui.tsv
+	rm *.obo
 
 # ----------------------------------------
-# ETL
+# Setup dirs
 # ----------------------------------------
-release/:
+tmp/input/:
+	mkdir -p $@
+output/:
+	mkdir -p $@
+output/release/:
 	mkdir -p $@
 
+# ----------------------------------------
+# ETL
+# ----------------------------------------
 ftp.ncbi.nlm.nih.gov:
 	wget -r -np ftp://ftp.ncbi.nlm.nih.gov/pub/medgen/ && touch $@
 
 uid2cui.tsv:
-	./bin/make_uid2cui.pl > $@
+	./src/make_uid2cui.pl > $@
 
 # ----------------------------------------
-# Hacky conversion to obo
+# Main artefacts
 # ----------------------------------------
+# Hacky conversion to obo ----------------
 # Relies on MGCONSO.RRF.gz etc being made by 'ftp.ncbi.nlm.nih.gov' step
 medgen.obo: ftp.ncbi.nlm.nih.gov uid2cui.tsv
-	./bin/medgen2obo.pl > [email protected] && mv [email protected] $@
+	./src/medgen2obo.pl > [email protected] && mv [email protected] $@
 
 # We only care about diseases for now
 # - NOTE: some cancers seem to appear under Neoplastic-Process
@@ -49,6 +64,13 @@ medgen-disease-extract.json: medgen-disease-extract.obo
 medgen-disease-extract.owl: medgen-disease-extract.obo
 	owltools $< -o $@
 
+# SSSOM ----------------------------------
+medgen.obographs.json:
+	robot convert -i medgen-disease-extract.owl -o $@
+
+medgen.sssom.tsv: medgen.obographs.json
+	sssom parse medgen.obographs.json -I obographs-json -m config/medgen.sssom-metadata.yml -o $@
+
 # ----------------------------------------
 # Cycles	
 # ----------------------------------------
@@ -59,6 +81,16 @@ medgen-disease-extract.owl: medgen-disease-extract.obo
 # ----------------------------------------
 # Devops
 # ----------------------------------------
-deploy-release: | release/
+deploy-release: | output/release/
 	@test $(VERSION)
-	gh release create $(VERSION) --notes "New release." --title "$(VERSION)" release/*
+	gh release create $(VERSION) --notes "New release." --title "$(VERSION)" output/release/*
+
+# ----------------------------------------
+# Mapping analysis
+# ----------------------------------------
+tmp/input/mondo.sssom.tsv: | tmp/input/
+	wget http://purl.obolibrary.org/obo/mondo/mappings/mondo.sssom.tsv -O $@
+
+# creates more than just this file; that goal creates multiple files
+output/medgen_terms_mapping_status.tsv output/obsoleted_medgen_terms_in_mondo.txt: | output/
+	python src/mondo_mapping_status.py

requirements-unlocked.txt

@@ -0,0 +1 @@
+pandas

requirements.txt

@@ -0,0 +1,14 @@
+distlib==0.3.6
+filelock==3.9.0
+numpy==1.25.1
+pandas==2.0.3
+pbr==5.11.1
+platformdirs==3.1.0
+python-dateutil==2.8.2
+pytz==2023.3
+six==1.16.0
+stevedore==5.0.0
+tzdata==2023.3
+virtualenv==20.20.0
+virtualenv-clone==0.5.7
+virtualenvwrapper==4.8.4

run.sh

@@ -0,0 +1,85 @@
+#!/bin/sh
+# Wrapper script for docker.
+#
+# This is used primarily for wrapping the GNU Make workflow.
+# Instead of typing "make TARGET", type "./run.sh make TARGET".
+# This will run the make workflow within a docker container.
+#
+# The assumption is that you are working in the src/ontology folder;
+# we therefore map the whole repo (../..) to a docker volume.
+#
+# To use singularity instead of docker, please issue
+# export USE_SINGULARITY=<any-value>
+# before running this script.
+#
+# See README-editors.md for more details.
+
+if [ -f run.sh.conf ]; then
+    . ./run.sh.conf
+fi
+
+# Look for a GitHub token
+if [ -n "$GH_TOKEN" ]; then
+    :
+elif [ -f ../../.github/token.txt ]; then
+    GH_TOKEN=$(cat ../../.github/token.txt)
+elif [ -f $XDG_CONFIG_HOME/ontology-development-kit/github/token ]; then
+    GH_TOKEN=$(cat $XDG_CONFIG_HOME/ontology-development-kit/github/token)
+elif [ -f "$HOME/Library/Application Support/ontology-development-kit/github/token" ]; then
+    GH_TOKEN=$(cat "$HOME/Library/Application Support/ontology-development-kit/github/token")
+fi
+
+ODK_IMAGE=${ODK_IMAGE:-odkfull}
+TAG_IN_IMAGE=$(echo $ODK_IMAGE | awk -F':' '{ print $2 }')
+if [ -n "$TAG_IN_IMAGE" ]; then
+  # Override ODK_TAG env var if IMAGE already includes a tag
+  ODK_TAG=$TAG_IN_IMAGE
+  ODK_IMAGE=$(echo $ODK_IMAGE | awk -F':' '{ print $1 }')
+fi
+ODK_TAG=${ODK_TAG:-latest}
+ODK_JAVA_OPTS=${ODK_JAVA_OPTS:--Xmx20G}
+ODK_DEBUG=${ODK_DEBUG:-no}
+
+# Convert OWLAPI_* environment variables to the OWLAPI as Java options
+# See http://owlcs.github.io/owlapi/apidocs_4/org/semanticweb/owlapi/model/parameters/ConfigurationOptions.html
+# for a list of allowed options
+OWLAPI_OPTIONS_NAMESPACE=org.semanticweb.owlapi.model.parameters.ConfigurationOptions
+for owlapi_var in $(env | sed -n s/^OWLAPI_//p) ; do
+    ODK_JAVA_OPTS="$ODK_JAVA_OPTS -D$OWLAPI_OPTIONS_NAMESPACE.${owlapi_var%=*}=${owlapi_var#*=}"
+done
+
+TIMECMD=
+if [ x$ODK_DEBUG = xyes ]; then
+    # If you wish to change the format string, take care of using
+    # non-breaking spaces (U+00A0) instead of normal spaces, to
+    # prevent the shell from tokenizing the format string.
+    echo "Running ${IMAGE} with ${ODK_JAVA_OPTS} of memory for ROBOT and Java-based pipeline steps."
+    TIMECMD="/usr/bin/time -f ### DEBUG STATS ###\nElapsed time: %E\nPeak memory: %M kb"
+fi
+
+VOLUME_BIND=$PWD:/work
+WORK_DIR=/work
+
+if [ -n "$ODK_BINDS" ]; then
+    VOLUME_BIND="$VOLUME_BIND,$ODK_BINDS"
+fi
+
+if [ -n "$USE_SINGULARITY" ]; then
+
+    singularity exec --cleanenv $ODK_SINGULARITY_OPTIONS \
+        --env "ROBOT_JAVA_ARGS=$ODK_JAVA_OPTS,JAVA_OPTS=$ODK_JAVA_OPTS" \
+        --bind $VOLUME_BIND \
+        -W $WORK_DIR \
+        docker://obolibrary/$ODK_IMAGE:$ODK_TAG $TIMECMD "$@"
+else
+    BIND_OPTIONS="-v $(echo $VOLUME_BIND | sed 's/,/ -v /')"
+    docker run $ODK_DOCKER_OPTIONS $BIND_OPTIONS -w $WORK_DIR \
+        -e ROBOT_JAVA_ARGS="$ODK_JAVA_OPTS" -e JAVA_OPTS="$ODK_JAVA_OPTS" \
+        --rm -ti obolibrary/$ODK_IMAGE:$ODK_TAG $TIMECMD "$@"
+fi
+
+case "$@" in
+*update_repo*|*release*)
+    echo "Please remember to update your ODK image from time to time: https://oboacademy.github.io/obook/howto/odk-update/."
+    ;;
+esac

bin/medgen2obo.pl → src/medgen2obo.pl

@@ -1,6 +1,7 @@
 #!/usr/bin/perl
 use strict;
 
+# Vars
 my %th = ();
 my %rh = ();
 my %dh = ();
@@ -10,6 +11,7 @@
 
 our $PATH = "ftp.ncbi.nlm.nih.gov/pub/medgen";
 
+# Execution
 open(F,"gzip -dc $PATH/MGCONSO.RRF.gz|") || die;
 while(<F>) {
     next if m@^#@;
@@ -101,17 +103,18 @@
 }
 print "\n";
 
-my @ids = keys %th;
-@ids = sort @ids;
-foreach my $id (@ids) {
+sub add_triples {
+    my ($prefix, $id) = @_;
+
     my $h = $th{$id};
     print "[Term]\n";
-    print "id: UMLS:$id\n";
+    print "id: $prefix:$id\n";
     print "name: $h->{name}\n";
     foreach my $x (keys %{$h->{xrefs}}) {
         $x =~ s@MSH:@MESH:@;
         $x =~ s@NCI:@NCIT:@;
         $x =~ s@SNOMEDCT_US:@SCTID:@;
+        # TODO: change these to skos:exactMatch?
         print "xref: $x\n";
     }
     foreach (keys %{$ssh{$id} || {}}) {
@@ -133,14 +136,41 @@
                     $tag = 'is_a:';
                 }
                 if ($rel eq 'mapped_to') {
-                    $tag = 'equivalent_to:';
+                    # TODO: change these to skos:exactMatch?
+                    $tag = 'equivalent_to:';  # This translates to owl:equivalentClass
+                    # $tag = 'xref:';  # want to get this to translate to skos:exactMatch, but got oboInOwl:hasDbXref instead
+                }
+                # Namespaces: Different ones based on if is a UMLS CUI (C#), a MEDGEN CUI Novel (CN#), or a MedGEn UID (#).
+                if ($v =~ /^CN\d+/) {
+                    print "$tag MEDGENCUI:$v {source=\"$vh->{$v}\"} ! $th{$v}->{name}\n";
+                # If a CUI (starts with 'C'), will be created twice: one for MEDGENCUI, one for UMLS
+                } elsif ($v =~ /^C\d+/) {
+                    print "$tag UMLS:$v {source=\"$vh->{$v}\"} ! $th{$v}->{name}\n";
+                    print "$tag MEDGENCUI:$v {source=\"$vh->{$v}\"} ! $th{$v}->{name}\n";
+                # UID
+                } else {
+                    print "$tag MEDGEN:$v {source=\"$vh->{$v}\"} ! $th{$v}->{name}\n";
                 }
-                print "$tag UMLS:$v {source=\"$vh->{$v}\"} ! $th{$v}->{name}\n";
             }
         }
     }
     print "\n";
 }
+my @ids = keys %th;
+@ids = sort @ids;
+foreach my $id (@ids) {
+    # Namespaces: Different ones based on if is a UMLS CUI (C#), a MedGen CUI Novel (CN#), or a MedGEn UID (#).
+    if ($id =~ /^CN\d+/) {
+        add_triples('MEDGENCUI', $id);
+    # If a CUI (starts with 'C'), will be created twice: one for MEDGENCUI, one for UMLS
+    } elsif ($id =~ /^C\d+/) {
+        add_triples('UMLS', $id);
+        add_triples('MEDGENCUI', $id);
+    # UID
+    } else {
+        add_triples('MEDGEN', $id);
+    }
+}
 
 exit 0;