/PhenIEI

Phenotype matching for Inborn Errors of Immunity

Primary LanguagePythonApache License 2.0Apache-2.0

title emoji sdk sdk_version app_file python_version pinned
PhenIEI
fire
streamlit
1.21.0
pheniei_app.py
3.8
true

PhenIEI

Exploring knowledge on Inborn Errors of Immunity

Contact : kevin.yauy@chu-montpellier.fr

Introduction

Through next-generation sequencing adoption, the clinical and genetic spectrum of Inborn Errors of Immunity (IEI) continuously expands with overlapping phenotypes across its ten major categories of diseases. Increasing phenotypic and genetic variability of known IEI is a critical challenge for IEI diagnosis.

We extracted knowledge on genetic diseases in inborn errors of immunity (IEI) based on 2022 IUIS classification, GenIA database and HPO.

Based on the gathered knowledge, we developed a clinical decision support system called PhenIEI to match patients’ symptoms to IEI knowledge, where genes are ranked according to the number of matched symptoms.

Run the tool

A webapp is accessible at https://huggingface.co/spaces/kyauy/PhenIEI, please try it !

It's a streamlit application, where code is accessible in ̀pheniei_app.py file.

To install on your local machine, you need poetry package manager and launch in the folder:

poetry install

To make it run in your local computer:

poetry shell
streamlit run pheniei_app.py

Using requirement ?

poetry export --without-hashes --format=requirements.txt > requirements.txt

PhenIEI is an initiative from:

PhenIEI is in partnership with: