fix: allow case insensitive search for OMIM terms (#160)

Cargo.toml

@@ -45,6 +45,7 @@ utoipa-swagger-ui = { version = "7.1.0", features = ["actix-web"] }
 utoipa = { version = "4.2", features = ["actix_extras", "chrono", "indexmap", "preserve_order", "yaml"] }
 
 [build-dependencies]
+anyhow = "1.0"
 prost-build = "0.12"
 
 [dev-dependencies]

README.md

@@ -34,14 +34,29 @@ We fix ourselves to the release from 2023-06-06.
 ```
 # RELEASE=2023-06-06
 # URL=https://github.com/obophenotype/human-phenotype-ontology/releases/download
-# NAMES="hp.obo phenotype.hpoa phenotype_to_genes.txt genes_to_phenotype.txt"
+# NAMES="hp-base.obo phenotype.hpoa phenotype_to_genes.txt genes_to_phenotype.txt"
 
 # mkdir -p /tmp/data/hpo
 # for name in $NAMES; do \
     wget \
         -O /tmp/data/hpo/$name \
         $URL/v$RELEASE/$name;
   done
+# mv /tmp/data/hpo/hp-base.obo /tmp/data/hpo/hp.obo
+# sed -i -e 's|/hp-base.owl||' /tmp/data/hpo/hp.obo
+```
+
+Next, generate the cross-link file between different gene identifiers.
+
+```
+# wget -O /tmp/hgnc_complete_set.json \
+    https://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/json/hgnc_complete_set.json
+# echo -e "hgnc_id\tensembl_gene_id\tentrez_id\tgene_symbol" \
+    > /tmp/data/hpo/hgnc_xlink.tsv
+# jq -r '.response.docs[] | select(.entrez_id != null) | [.hgnc_id, .ensembl_gene_id, .entrez_id, .symbol] | @tsv' \
+    /tmp/hgnc_complete_set.json \
+  | LC_ALL=C sort -t $'\t' -k3,3n \
+  >> /tmp/data/hpo/hgnc_xlink.tsv
 ```
 
 You can now conver the downloaded text HPO files to a binary format which will improve performance of loading data.
@@ -57,46 +72,29 @@ You can now conver the downloaded text HPO files to a binary format which will i
 After having the precomputed data, you can startup the server as follows:
 
 ```
-# viguno run-server \
+# viguno server run \
     --path-hpo-dir tests/data/hpo
 INFO args_common = Args { verbose: Verbosity { verbose: 0, quiet: 0, phantom: PhantomData<clap_verbosity_flag::InfoLevel> } }
 INFO args = Args { path_hpo_dir: "tests/data/hpo", suppress_hints: false, listen_host: "127.0.0.1", listen_port: 8080 }
 INFO Loading HPO...
-INFO ...done loading HPO in 8.180012599s
-INFO Opening RocksDB for reading...
-INFO ...done opening RocksDB in 19.027133ms
+INFO   attempting to load binary HPO file from tests/data/hpo
+INFO ...done loading HPO in 4.788750172s
+INFO Loading HGNC xlink...
+INFO ... done loading HGNC xlink in 156.362034ms
+INFO Loading HPO OBO...
+INFO ... done loading HPO OBO in 1.90213703s
+INFO Indexing OBO...
+INFO ... done indexing OBO in 835.558794ms
 INFO Launching server main on http://127.0.0.1:8080 ...
-INFO   try: http://127.0.0.1:8080/hpo/genes?gene_symbol=TGDS
-INFO   try: http://127.0.0.1:8080/hpo/genes?gene_id=23483&hpo_terms=true
-INFO   try: http://127.0.0.1:8080/hpo/omims?omim_id=616145&hpo_terms=true
-INFO   try: http://127.0.0.1:8080/hpo/terms?term_id=HP:0000023&genes=true
-INFO   try: http://127.0.0.1:8080/hpo/sim/term-term?lhs=HP:0001166,HP:0040069&rhs=HP:0005918,HP:0004188
-INFO   try: http://127.0.0.1:8080/hpo/sim/term-gene?terms=HP:0001166,HP:0000098&gene_symbols=FBN1,TGDS,TTN
-INFO starting 4 workers
+INFO   SEE SWAGGER UI FOR INTERACTIVE DOCS: http://127.0.0.1:8080/swagger-ui/
+INFO starting 8 workers
 INFO Actix runtime found; starting in Actix runtime
 ```
 
 Now the server is running and you could stop it with `Ctrl-C`.
 
-In another terminal, you then now do as suggested above.
-Note that we truncate the output JSON.
-
-```
-# curl 'http://127.0.0.1:8080/hpo/genes?gene_symbol=TGDS'
-[{"gene_ncbi_id":23483,"gene_symbol":"TGDS"}]
-
-# curl 'http://127.0.0.1:8080/hpo/genes?gene_id=23483&hpo_terms=true'
-[{"gene_ncbi_id":23483,"gene_symbol":"TGDS","hpo_terms":[{"term_...
-
-# curl 'http://127.0.0.1:8080/hpo/omims?omim_id=616145&hpo_terms=true'
-[{"omim_id":"OMIM:616145","name":"Catel-Manzke syndrome","hpo_te...
-
-# curl 'http://127.0.0.1:8080/hpo/terms?term_id=HP:0000023&genes=true'
-[{"term_id":"HP:0000023","name":"Inguinal hernia","genes":[{"gen...
-
-# curl 'http://127.0.0.1:8080/hpo/sim/term-term?lhs=HP:0001166,HP:0040069&rhs=HP:0005918,HP:0004188'
-[{"lhs":"HP:0001166","rhs":"HP:0005918","score":1.4280319,"sim":...
-```
+You can go to http://127.0.0.1/swagger-ui to see the automatically generated interactive API documentation.
+You can find the OpenAPI YAML file for the `main` branch [here on GitHub](https://raw.githubusercontent.com/varfish-org/viguno/main/openapi.yaml) and e.g., open it [here in the public Swagger editor](https://editor.swagger.io?url=https://raw.githubusercontent.com/varfish-org/viguno/main/openapi.yaml).
 
 # Developer Documentation
 

build.rs

@@ -1,13 +1,28 @@
-// The custom build script, needed as we use protocolbuffers.
+use std::{env, path::PathBuf};
+
+fn main() -> Result<(), anyhow::Error> {
+    let root = PathBuf::from(env!("CARGO_MANIFEST_DIR")).join("protos");
+    let proto_files = ["viguno/v1/simulation.proto"]
+        .iter()
+        .map(|f| root.join(f))
+        .collect::<Vec<_>>();
+
+    // Tell cargo to recompile if any of these proto files are changed
+    for proto_file in &proto_files {
+        println!("cargo:rerun-if-changed={}", proto_file.display());
+    }
+
+    let descriptor_path = PathBuf::from(env::var("OUT_DIR").unwrap()).join("proto_descriptor.bin");
 
-fn main() {
     prost_build::Config::new()
-        .protoc_arg("-Isrc/proto")
+        // Save descriptors to file
+        .file_descriptor_set_path(&descriptor_path)
         // Add serde serialization and deserialization to the generated code.
         .type_attribute(".", "#[derive(serde::Serialize, serde::Deserialize)]")
         // Skip serializing `None` values.
         .type_attribute(".", "#[serde_with::skip_serializing_none]")
         // Define the protobuf files to compile.
-        .compile_protos(&["viguno/v1/simulation.proto"], &["src/"])
-        .unwrap();
+        .compile_protos(&proto_files, &[root])?;
+
+    Ok(())
 }

openapi.yaml

@@ -14,7 +14,7 @@ paths:
       tags:
       - hpo_genes
       summary: Query for genes in the HPO database.
-      operationId: handle
+      operationId: hpo_genes
       parameters:
       - name: gene_id
         in: query
@@ -63,7 +63,7 @@ paths:
       tags:
       - hpo_omims
       summary: Query for OMIM diseases in the HPO database.
-      operationId: handle
+      operationId: hpo_omims
       parameters:
       - name: omim_id
         in: query
@@ -81,12 +81,19 @@ paths:
           nullable: true
       - name: match_
         in: query
-        description: The match mode.
+        description: The match mode, default is `Match::Exact`.
         required: false
         schema:
           allOf:
           - $ref: '#/components/schemas/Match'
           nullable: true
+      - name: ignore_case
+        in: query
+        description: Whether case is insentivie, default is `false`.
+        required: false
+        schema:
+          type: boolean
+          nullable: true
       - name: max_results
         in: query
         description: Maximal number of results to return.
@@ -107,6 +114,101 @@ paths:
             application/json:
               schema:
                 $ref: '#/components/schemas/Result'
+  /hpo/sim/term-gene:
+    get:
+      tags:
+      - hpo_sim::term_gene
+      summary: Query for similarity between a set of terms to each entry in a
+      description: list of genes.
+      operationId: hpo_sim_term_gene
+      parameters:
+      - name: terms
+        in: query
+        description: Set of terms to use as query.
+        required: true
+        schema:
+          type: array
+          items:
+            type: string
+      - name: gene_ids
+        in: query
+        description: The set of ids for genes to use as "database".
+        required: false
+        schema:
+          type: array
+          items:
+            type: string
+          nullable: true
+      - name: gene_symbols
+        in: query
+        description: The set of symbols for genes to use as "database".
+        required: false
+        schema:
+          type: array
+          items:
+            type: string
+          nullable: true
+      responses:
+        '200':
+          description: The query was successful.
+          content:
+            application/json:
+              schema:
+                $ref: '#/components/schemas/Result'
+  /hpo/sim/term-term:
+    get:
+      tags:
+      - hpo_sim::term_term
+      summary: Query for pairwise term similarity.
+      description: |-
+        In the case of Resnik, this corresponds to `IC(MICA(t_1, t_2))`.
+
+        # Errors
+
+        In the case that there is an error running the server.
+      operationId: hpo_sim_term_term
+      parameters:
+      - name: lhs
+        in: query
+        description: The one set of HPO terms to compute similarity for.
+        required: true
+        schema:
+          type: array
+          items:
+            type: string
+      - name: rhs
+        in: query
+        description: The second set of HPO terms to compute similarity for.
+        required: true
+        schema:
+          type: array
+          items:
+            type: string
+      - name: ic_base
+        in: query
+        description: What should information content be based on.
+        required: false
+        schema:
+          $ref: '#/components/schemas/IcBasedOn'
+      - name: similarity
+        in: query
+        description: The similarity method to use.
+        required: false
+        schema:
+          $ref: '#/components/schemas/SimilarityMethod'
+      - name: combiner
+        in: query
+        description: The score combiner.
+        required: false
+        schema:
+          $ref: '#/components/schemas/ScoreCombiner'
+      responses:
+        '200':
+          description: The query was successful.
+          content:
+            application/json:
+              schema:
+                $ref: '#/components/schemas/Result'
   /hpo/terms:
     get:
       tags:
@@ -116,7 +218,7 @@ paths:
         # Errors
 
         In the case that there is an error running the server.
-      operationId: handle
+      operationId: hpo_terms
       parameters:
       - name: term_id
         in: query

src/algos/phenomizer.rs

@@ -84,7 +84,7 @@ mod test {
 
         let score = score(&prepare(query), &hpo_marfan, &hpo);
 
-        assert!((score - 1.770_859_7).abs() < 0.00001, "score = {score}");
+        assert!((score - 1.757_194).abs() < 0.00001, "score = {score}");
 
         Ok(())
     }

src/query/mod.rs

@@ -18,9 +18,6 @@ pub struct Args {
     /// Path to the directory with the HPO files.
     #[arg(long, required = true)]
     pub path_hpo_dir: String,
-    /// Path to the TSV file with the HGNC xlink data.
-    #[arg(long, required = true)]
-    pub path_hgnc_xlink: String,
 
     /// Path to JSON file with the genes to rank.
     #[arg(long)]
@@ -318,7 +315,8 @@ pub fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), anyhow:
 
     tracing::info!("Loading HGNC xlink...");
     let before_load_xlink = Instant::now();
-    let ncbi_to_hgnc = crate::common::hgnc_xlink::load_ncbi_to_hgnc(&args.path_hgnc_xlink)?;
+    let path_hgnc_xlink = format!("{}/hgnc_xlink.tsv", args.path_hpo_dir);
+    let ncbi_to_hgnc = crate::common::hgnc_xlink::load_ncbi_to_hgnc(path_hgnc_xlink)?;
     tracing::info!(
         "... done loading HGNC xlink in {:?}",
         before_load_xlink.elapsed()

src/server/run/hpo_genes.rs

@@ -132,6 +132,7 @@ pub struct Result {
 /// Query for genes in the HPO database.
 #[allow(clippy::unused_async)]
 #[utoipa::path(
+    operation_id = "hpo_genes",
     params(Query),
     responses(
         (status = 200, description = "The query was successful.", body = Result),
@@ -215,7 +216,7 @@ pub(crate) mod test {
     pub fn web_server_data() -> Arc<crate::server::run::WebServerData> {
         let ontology = crate::common::load_hpo("tests/data/hpo").expect("could not load HPO");
         let ncbi_to_hgnc =
-            crate::common::hgnc_xlink::load_ncbi_to_hgnc("tests/data/hgnc_xlink.tsv")
+            crate::common::hgnc_xlink::load_ncbi_to_hgnc("tests/data/hpo/hgnc_xlink.tsv")
                 .expect("could not HGNC xlink");
         let hgnc_to_ncbi = crate::common::hgnc_xlink::inverse_hashmap(&ncbi_to_hgnc);
         let hpo_doc = fastobo::from_file("tests/data/hpo/hp.obo").expect("could not load HPO OBO");