https://github.com/cancervariants/disease-normalization

Services and guidelines for normalizing disease terms

https://github.com/cancervariants/disease-normalization

Science Score: 26.0%

This score indicates how likely this project is to be science-related based on various indicators:

  • CITATION.cff file
  • codemeta.json file
    Found codemeta.json file
  • .zenodo.json file
    Found .zenodo.json file
  • DOI references
  • Academic publication links
  • Committers with academic emails
  • Institutional organization owner
  • JOSS paper metadata
  • Scientific vocabulary similarity
    Low similarity (11.1%) to scientific vocabulary

Keywords

bioinformatics biomedical-informatics disease-classification precision-medicine python

Keywords from Contributors

genetics
Last synced: 6 months ago · JSON representation

Repository

Services and guidelines for normalizing disease terms

Basic Info
Statistics
  • Stars: 6
  • Watchers: 4
  • Forks: 0
  • Open Issues: 31
  • Releases: 36
Topics
bioinformatics biomedical-informatics disease-classification precision-medicine python
Created about 5 years ago · Last pushed 6 months ago
Metadata Files
Readme License

README.md

Disease Normalizer

image image image Actions status

The Disease Normalizer resolves ambiguous references and descriptions of human diseases to consistently-structured, normalized terms. For concepts extracted from NCIt, Mondo Disease Ontology, The Human Disease Ontology, OMIM, and OncoTree, it designates a CURIE, and provides additional metadata like aliases and cross-references. <!-- /description -->


Documentation · Installation · API reference


Installation

The Disease Normalizer is available via PyPI:

```commandline

python3 -m pip install disease-normalizer ```

See installation instructions in the documentation for a description of installation options and data setup requirements.


Examples

Use the live service to programmatically normalize disease terms, as in the following truncated example:

shell $ curl -s 'https://normalize.cancervariants.org/disease/normalize?q=liver%20cancer' | python -m json.tool { "query": "liver cancer", "warnings": null, "match_type": 80, "disease": { "conceptType": "Disease", "primaryCoding": { "id": "ncit:C34803", "code": "C34803", "system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=", }, "id": "normalize.disease:liver%20cancer", "name": "Primary Malignant Liver Neoplasm", # ... } }

Or utilize the Python API for fast local access:

```pycon

from disease.query import QueryHandler from disease.database import createdb q = QueryHandler(createdb()) result = q.normalize("NSCLC") result.disease.primaryCoding.id 'ncit:C2926' ```


Feedback and contributing

We welcome bug reports, feature requests, and code contributions from users and interested collaborators. The documentation contains guidance for submitting feedback and contributing new code.

Owner

  • Name: VICC
  • Login: cancervariants
  • Kind: organization

The Variant Interpretation for Cancer Consortium

GitHub Events

Total
  • Create event: 30
  • Release event: 7
  • Issues event: 34
  • Delete event: 25
  • Issue comment event: 40
  • Push event: 81
  • Pull request review comment event: 34
  • Pull request review event: 75
  • Pull request event: 62
Last Year
  • Create event: 30
  • Release event: 7
  • Issues event: 34
  • Delete event: 25
  • Issue comment event: 40
  • Push event: 81
  • Pull request review comment event: 34
  • Pull request review event: 75
  • Pull request event: 62

Committers

Last synced: almost 3 years ago

All Time
  • Total Commits: 330
  • Total Committers: 3
  • Avg Commits per committer: 110.0
  • Development Distribution Score (DDS): 0.148
Top Committers
Name Email Commits
James Stevenson j****n@n****g 281
korikuzma k****a@g****m 42
Kori Kuzma 4****a@u****m 7
Committer Domains (Top 20 + Academic)

Issues and Pull Requests

Last synced: 6 months ago

All Time
  • Total issues: 85
  • Total pull requests: 181
  • Average time to close issues: 4 months
  • Average time to close pull requests: 7 days
  • Total issue authors: 5
  • Total pull request authors: 3
  • Average comments per issue: 0.92
  • Average comments per pull request: 0.21
  • Merged pull requests: 157
  • Bot issues: 0
  • Bot pull requests: 0
Past Year
  • Issues: 20
  • Pull requests: 60
  • Average time to close issues: 6 days
  • Average time to close pull requests: 4 days
  • Issue authors: 4
  • Pull request authors: 2
  • Average comments per issue: 0.05
  • Average comments per pull request: 0.42
  • Merged pull requests: 48
  • Bot issues: 0
  • Bot pull requests: 0
Top Authors
Issue Authors
  • jsstevenson (51)
  • korikuzma (31)
  • JackCuihfb (1)
  • mcannon068nw (1)
  • bwalsh (1)
Pull Request Authors
  • jsstevenson (121)
  • korikuzma (59)
  • bwalsh (1)
Top Labels
Issue Labels
enhancement (22) priority:low (22) bug (20) priority:medium (12) keep-alive (11) priority:high (11) stale (6) technical debt (6) stale-exempt (5) NCIt (5) MONDO (5) closed-by-stale (3) OMIM (3) test (3) build (3) OncoTree (2) chore (2) documentation (2) performance (1) analysis (1) DO (1) question (1) good first issue (1) ux (1)
Pull Request Labels
priority:low (83) priority:medium (19) enhancement (14) bug (11) build (9) priority:high (7) MONDO (4) chore (4) ci/cd (3) documentation (2) cleanup (2) test (1)

Packages

  • Total packages: 1
  • Total downloads:
    • pypi 2,235 last-month
  • Total dependent packages: 2
  • Total dependent repositories: 3
  • Total versions: 36
  • Total maintainers: 3
pypi.org: disease-normalizer

VICC normalization routines for diseases

  • Homepage: https://github.com/cancervariants/disease-normalization
  • Documentation: https://disease-normalizer.readthedocs.io
  • License: MIT License Copyright (c) 2021-2024 VICC Permission is hereby granted, free of charge, to any person obtaining a copy of this software and associated documentation files (the "Software"), to deal in the Software without restriction, including without limitation the rights to use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies of the Software, and to permit persons to whom the Software is furnished to do so, subject to the following conditions: The above copyright notice and this permission notice shall be included in all copies or substantial portions of the Software. THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE.
  • Latest release: 0.11.2
    published 8 months ago
  • Versions: 36
  • Dependent Packages: 2
  • Dependent Repositories: 3
  • Downloads: 2,235 Last month
Rankings
Dependent packages count: 3.2%
Downloads: 7.5%
Dependent repos count: 9.0%
Average: 14.9%
Stargazers count: 25.1%
Forks count: 29.8%
Maintainers (3)
Last synced: 6 months ago

Dependencies

Pipfile pypi
  • coverage * develop
  • coveralls * develop
  • disease-normalizer * develop
  • flake8 * develop
  • flake8-docstrings * develop
  • ipykernel * develop
  • matplotlib * develop
  • pre-commit * develop
  • pytest * develop
  • pytest-cov * develop
  • boto3 *
  • click *
  • fastapi >=0.72.0
  • ga4gh.vrsatile.pydantic >=0.0.5
  • httptools *
  • owlready2 *
  • pydantic *
  • pyparsing ==2.4.7
  • rdflib *
  • requests *
  • typing-extensions *
  • uvicorn *
  • uvloop *
  • websockets *
.github/workflows/release.yml actions
  • actions/checkout v2 composite
  • actions/setup-python v2 composite
.github/workflows/checks.yml actions
  • actions/checkout v3 composite
  • actions/setup-python v4 composite
  • chartboost/ruff-action v1 composite
  • psf/black stable composite
  • postgres 14 docker
pyproject.toml pypi