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ivanwilliammd committed Apr 9, 2024
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# [IDeRare-Pheno](https://iderare-pheno.readthedocs.io/)

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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.
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<p align="center">
<a href="https://github.com/ivanwilliammd/iderare-pheno/actions">
<img alt="CI" src="https://github.com/ivanwilliammd/iderare-pheno/workflows/Main/badge.svg">
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IDeRare or "Indonesia Exome Rare Disease Variant Discovery Pipeline" is a simple and ready to use variant discovery pipeline to discover rare disease variants from exome sequencing data.

This repository is **the first part** of IDeRare workflow for **phenotype analysis**. For complete pipeline for _**phenotype-genotype analysis**_, kindly refer to [IDeRare Github repository](https://github.com/ivanwilliammd/IDeRare).

## Authored by
Ivan William Harsono<sup>a</sup>, Yulia Ariani<sup>b</sup>, Beben Benyamin<sup>c,d,e</sup>, Fadilah Fadilah<sup>f,g</sup>, Dwi Ari Pujianto<sup>b</sup>, Cut Nurul Hafifah<sup>h</sup>

<sup>a</sup>Doctoral Program in Biomedical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.<br>
<sup>b</sup>Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.<br>
<sup>c</sup>Australian Centre for Precision Health, University of South Australia, Adelaide, SA, 5000, Australia. <br>
<sup>d</sup>UniSA Allied Health and Human Performance, University of South Australia, Adelaide, SA, 5000, Australia. <br>
<sup>e</sup>South Australian Health and Medical Research Institute (SAHMRI), University of South Australia, Adelaide, SA, 5000, Australia. <br>
<sup>f</sup>Department of Medical Chemistry, Faculty of Medicine, Universitas Indonesia, Jalan Salemba Raya number 4, Jakarta, 10430, Indonesia.<br>
<sup>g</sup>Bioinformatics Core Facilities - IMERI, Faculty of Medicine, Universitas Indonesia, Jalan Salemba Raya number 6, Jakarta, 10430, Indonesia .<br>
<sup>h</sup>Department of Child Health, Dr. Cipto Mangunkusumo Hospital, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia. <br>


**Note:** Currently IDeRare paper is being considered journal submission. The citation will be updated once the paper is published.

## Quick links

- [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 Playbook Example](https://github.com/ivanwilliammd/iderare-pheno/blob/main/Playbook.ipynb)
- Interactive Webapps Implementation of at [Streamlit](https://bioinformatics-ivanwilliamharsono.streamlitapp.com/IDeRare_Pheno)


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## Usage
## Importing the library

```python
from iderare_pheno.converter import term2omim, term2orpha, term2hpo, batchconvert
from iderare_pheno.simrec import hpo2omim_similarity, omim_recommendation, hpo2name
from iderare_pheno.utils import linkage_dendrogram, list2tsv
from iderare_pheno.utils import linkage_dendrogram, list2tsv, generate_yml
```
As the complete readthedocs.io is still ongoing, please kindly refer to this [Interactive Playbook Example](https://github.com/ivanwilliammd/iderare-pheno/blob/main/Playbook.ipynb)


## Team

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**iderare-pheno** license is derived from [IDeRare](https://github.com/ivanwilliammd/iderare)

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