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Bump version to v0.1.8 for release
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ivanwilliammd committed Apr 6, 2024
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2 changes: 1 addition & 1 deletion .github/workflows/main.yml
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Expand Up @@ -139,7 +139,7 @@ jobs:
twine upload -u '${{ secrets.PYPI_USERNAME }}' -p '${{ secrets.PYPI_PASSWORD }}' dist/*
- name: Publish GitHub release
uses: softprops/action-gh-release@v1
uses: softprops/action-gh-release@v2
env:
GITHUB_TOKEN: ${{ secrets.GITHUB_TOKEN }}
with:
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2 changes: 2 additions & 0 deletions CHANGELOG.md
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Expand Up @@ -7,6 +7,8 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0

## Unreleased

## [v0.1.8](https://github.com/ivanwilliammd/iderare-pheno/releases/tag/v0.1.8) - 2024-04-06

## [v0.1.7](https://github.com/ivanwilliammd/iderare-pheno/releases/tag/v0.1.7) - 2024-04-06

## [v0.1.6](https://github.com/ivanwilliammd/iderare-pheno/releases/tag/v0.1.6) - 2024-04-06
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32 changes: 18 additions & 14 deletions README.md
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@@ -1,21 +1,8 @@
# [IDeRare-pheno](https://iderare-pheno.readthedocs.io/)
# [IDeRare-Pheno](https://iderare-pheno.readthedocs.io/)

<!-- start tagline -->

IDeRare or "Indonesia Exome Rare Disease Variant Discovery Pipeline" is simple and ready to use variant discovery pipeline to discover rare disease variants from exome sequencing data.

Interactive Webapps Implementation of **iderare_pheno.py** hosted at [Streamlit](https://bioinformatics-ivanwilliamharsono.streamlitapp.com/IDeRare_Pheno)

This script is recommended if you would like to do conversion, linkage analysis, similarity scoring, and gene-disease recommendation based on the phenotype data provided at [clinical_data.txt](clinical_data.txt). Full feature :
1. Convert the phenotype data to HPO code (accept mixed SNOMED, LOINC, and HPO code)
2. Similarity scoring of differential diagnosis
3. Linkage analysis of differential diagnosis (accept mixed SNOMED, ICD-10, ORPHA, OMIM code), include dendrogram tree visualization.
- This should help clinician to **systematically doing work-up and excluding similar diagnosis together** based on the patient\'s phenotype.
4. Gene and disease recommendation based on the phenotype data similarity scoring between **phenotype** and OMIM gene and disease databank.
5. Linkage analysis of recommended causative gene and disease based on phenotype data (include dendrogram tree visualization).
- This should help clinician to **explore / enrich their differential diagnosis** based on the patient\'s phenotype.
6. Example of the clinical data provided at [Clinical Information Example section](#clinical-information-example)

<!-- end tagline -->

<p align="center">
Expand All @@ -31,6 +18,8 @@ This script is recommended if you would like to do conversion, linkage analysis,
<a href="https://github.com/ivanwilliammd/iderare-pheno/blob/main/LICENSE">
<img alt="License" src="https://img.shields.io/github/license/ivanwilliammd/iderare-pheno.svg?color=blue&cachedrop">
</a>
<a href="https://bioinformatics-ivanwilliamharsono.streamlit.app/IDeRare_Pheno">
<img alt="Streamlit" src="https://static.streamlit.io/badges/streamlit_badge_black_white.svg">
<br/>
</p>

Expand All @@ -39,6 +28,21 @@ This script is recommended if you would like to do conversion, linkage analysis,
- [Documentation](https://iderare-pheno.readthedocs.io/)
- [PyPI Package](https://pypi.org/project/iderare-pheno/)
- [License](https://github.com/ivanwilliammd/iderare-pheno/blob/main/LICENSE)
- Interactive Webapps Implementation of at [Streamlit](https://bioinformatics-ivanwilliamharsono.streamlitapp.com/IDeRare_Pheno)


## What does it do?

This script is recommended if you would like to do conversion, linkage analysis, similarity scoring, and gene-disease recommendation based on the phenotype data provided at [clinical_data.txt](clinical_data.txt). Full feature :
1. Convert the phenotype data to HPO code (accept mixed SNOMED, LOINC, and HPO code)
2. Similarity scoring of differential diagnosis
3. Linkage analysis of differential diagnosis (accept mixed SNOMED, ICD-10, ORPHA, OMIM code), include dendrogram tree visualization.
- This should help clinician to **systematically doing work-up and excluding similar diagnosis together** based on the patient\'s phenotype.
4. Gene and disease recommendation based on the phenotype data similarity scoring between **phenotype** and OMIM gene and disease databank.
5. Linkage analysis of recommended causative gene and disease based on phenotype data (include dendrogram tree visualization).
- This should help clinician to **explore / enrich their differential diagnosis** based on the patient\'s phenotype.
6. Example of the clinical data provided at [Clinical Information Example section](#clinical-information-example)


## Installation

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2 changes: 1 addition & 1 deletion iderare_pheno/version.py
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_MINOR = "1"
# On main and in a nightly release the patch should be one ahead of the last
# released build.
_PATCH = "7"
_PATCH = "8"
# This is mainly for nightly builds which have the suffix ".dev$DATE". See
# https://semver.org/#is-v123-a-semantic-version for the semantics.
_SUFFIX = ""
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