biomedical_id_resolver

biomedical_id_resolver.js

js library for resolving biological ids to their equivalent ids in batch

Install

$ npm i biomedical_id_resolver

Usage

const resolve = require('biomedical_id_resolver');

// input should be an object, with semantic type as the key, and array of CURIEs as value
let input = {
    "Gene": ["NCBIGene:1017", "NCBIGene:1018", "HGNC:1177"],
    "SmallMolecule": ["CHEBI:15377"],
    "Disease": ["MONDO:0004976"],
    "Cell": ["CL:0002372"]
  };

(async () => {
  const resolver = new resolve();
	console.log(await resolver.resolve(input);
	//=> {'NCBIGene:1017': {...}, 'NCBIGene:1018': {...}, 'HGNC:1177': {...}, 'CHEBI:15377': {...}, 'MONDO:0004976': {...}, 'CL:0002372': {...}}
})();

Output Schema

• Output is a javascript Object

• The root keys are CURIES (e.g. NCBIGene:1017) which are passed in as input

• The values represents resolved identifiers

• Each CURIE will have 4 required fields

  • id: the primary id (selected based on the ranking described in the next section) and label

  • curies: an array, each element represents a resolved id in CURIE format

  • type: the semantic type of the identifier

  • db_ids: original ids from source database, could be curies or non-curies.

• if an ID can not be resolved using the package, it will have an additional field called "flag", with value equal to "failed"

• Example Output

{
  "NCBIGene:1017": {
    "id": {
      "label": "cyclin dependent kinase 2",
      "identifier": "NCBIGene:1017"
    },
    "db_ids": {
      "NCBIGene": [
        "1017"
      ],
      "ENSEMBL": [
        "ENSG00000123374"
      ],
      "HGNC": [
        "1771"
      ],
      "SYMBOL": [
        "CDK2"
      ],
      "UMLS": [
        "C1332733",
        "C0108855"
      ],
      "name": [
        "cyclin dependent kinase 2"
      ]
    },
    "type": "Gene",
    "curies": [
      "NCBIGene:1017",
      "ENSEMBL:ENSG00000123374",
      "HGNC:1771",
      "SYMBOL:CDK2",
      "UMLS:C1332733",
      "UMLS:C0108855"
    ]
  }
}

Query Using SRI node normalizer

Usage

const resolver = require('biomedical_id_resolver');

// input must be an object, with semantic type as the key, and array of CURIEs as value

let input = {
    "Gene": ["NCBIGene:1017", "NCBIGene:1018", "HGNC:1177"],
    "SmallMolecule": ["CHEBI:15377"],
    "Disease": ["MONDO:0004976"],
    "Cell": ["CL:0002372"]
};

// SRI resolver will figure out the semantic type if the input type is 'unknown', 'undefined', or 'NamedThing'
let input = {
    "unknown": ["NCBIGene:1017", "MONDO:0004976"],
};

(async () => {
  let res = await resolver.resolveSRI(input);
  console.log(res);
})();

Example Output

The output contains id and equivalent_identifiers straight from SRI as well as the same fields as the base resolver to make it backwards compatible with it. If the SRI resolved semantic type doesn't agree with the input semantic type, there will be 2 entries in the array for the curie.

{
  "NCBIGene:1017": [
    {
      "id": {
        "identifier": "NCBIGene:1017",
        "label": "CDK2"
      },
      "equivalent_identifiers": [
        {
          "identifier": "NCBIGene:1017",
          "label": "CDK2"
        },
        {
          "identifier": "ENSEMBL:ENSG00000123374"
        },
        {
          "identifier": "HGNC:1771",
          "label": "CDK2"
        },
        {
          "identifier": "OMIM:116953"
        },
        {
          "identifier": "UMLS:C1332733",
          "label": "CDK2 gene"
        }
      ],
      "type": [
        "biolink:Gene",
        "biolink:GeneOrGeneProduct",
        "biolink:BiologicalEntity",
        "biolink:NamedThing",
        "biolink:Entity",
        "biolink:MacromolecularMachineMixin"
      ],
      "primaryID": "NCBIGene:1017",
      "label": "CDK2",
      "attributes": {},
      "semanticType": "Gene",
      "semanticTypes": [
        "biolink:Gene",
        "biolink:GeneOrGeneProduct",
        "biolink:BiologicalEntity",
        "biolink:NamedThing",
        "biolink:Entity",
        "biolink:MacromolecularMachineMixin"
      ],
      "dbIDs": {
        "NCBIGene": [
          "1017"
        ],
        "ENSEMBL": [
          "ENSG00000123374"
        ],
        "HGNC": [
          "1771"
        ],
        "OMIM": [
          "116953"
        ],
        "UMLS": [
          "C1332733"
        ],
        "name": [
          "CDK2",
          "CDK2 gene"
        ]
      },
      "curies": [
        "NCBIGene:1017",
        "ENSEMBL:ENSG00000123374",
        "HGNC:1771",
        "OMIM:116953",
        "UMLS:C1332733"
      ]
    }
  ]
}

Available Semantic Types & prefixes

Gene, Transcript, Protein ID resolution is done through MyGene.info API

• Gene

  1. NCBIGene
  2. ENSEMBL
  3. HGNC
  4. MGI
  5. OMIM
  6. UMLS
  7. SYMBOL
  8. UniProtKB
  9. name

• Transcript

  1. ENSEMBL
  2. SYMBOL
  3. name

• Protein

  1. UniProtKB
  2. ENSEMBL
  3. UMLS
  4. SYMBOL
  5. name

Variant ID resolution is done through MyVariant.info API

• SequenceVariant
  1. CLINVAR
  2. DBSNP
  3. HGVS
  4. MYVARIANT_HG19

SmallMolecule, Drug ID resolution is done through MyChem.info API

• SmallMolecule

  1. PUBCHEM.COMPOUND
  2. CHEMBL.COMPOUND
  3. UNII
  4. CHEBI
  5. DRUGBANK
  6. MESH
  7. CAS
  8. HMDB
  9. KEGG.COMPOUND
  10. INCHI
  11. INCHIKEY
  12. UMLS
  13. LINCS
  14. name

• Drug

  1. RXCUI
  2. NDC
  3. DRUGBANK
  4. PUBCHEM.COMPOUND
  5. CHEMBL.COMPOUND
  6. UNII
  7. CHEBI
  8. MESH
  9. CAS
  10. HMDB
  11. KEGG.COMPOUND
  12. INCHI
  13. INCHIKEY
  14. UMLS
  15. LINCS
  16. name

Disease, ClinicalFinding ID Resolution is done through MyDisease.info API

• Disease

  1. MONDO
  2. DOID
  3. OMIM
  4. ORPHANET
  5. EFO
  6. UMLS
  7. MESH
  8. MEDDRA
  9. NCIT
  10. SNOMEDCT
  11. HP
  12. GARD
  13. name

• ClinicalFinding

  1. LOINC
  2. NCIT
  3. EFO
  4. name

Pathway ID Resolution is done through biothings.ncats.io/geneset API

• Pathway
  1. GO
  2. REACT
  3. KEGG
  4. SMPDB
  5. PHARMGKB.PATHWAYS
  6. WIKIPATHWAYS
  7. BIOCARTA
  8. name

MolecularActivity ID Resolution is done through BioThings Gene Ontology Molecular Activity API

• MolecularActivity
  1. GO
  2. REACT
  3. RHEA
  4. MetaCyc
  5. KEGG.REACTION
  6. name

CellularComponent ID Resolution is done through BioThings Gene Ontology Cellular Component API

• CellularComponent
  1. GO
  2. MetaCyc
  3. name

BiologicalProcess ID Resolution is done through BioThings Gene Ontology Biological Process API

• BiologicalProcess

  1. GO
  2. REACT
  3. MetaCyc
  4. KEGG
  5. name

AnatomicalEntity ID Resolution is done through BioThings UBERON API

• AnatomicalEntity
  1. UBERON
  2. UMLS
  3. MESH
  4. NCIT
  5. name

PhenotypicFeature ID Resolution is done through BioThings HPO API

• PhenotypicFeature
  1. HP
  2. EFO
  3. NCIT
  4. UMLS
  5. MEDDRA
  6. MP
  7. SNOMEDCT
  8. MESH
  9. name

Cell ID Resolution is done through Biothings Cell Ontology API

• Cell
  1. CL
  2. NCIT
  3. MESH
  4. EFO
  5. name

Development

1. Install Node 12 or later. You can use the package manager of your choice. Tests need to pass in Node 12 and 14.
2. Clone this repository.
3. Run npm ci to install the dependencies.
4. scripts are stored in /src folder
5. Add test to /__tests__ folder
6. run npm run release to bump version and generate change log
7. run npx depcheck to check for unused packages in package.json

CHANGELOG

See CHANGELOG.md