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PhenoScore is an open source, artificial intelligence-based phenomics framework that combines facial recognition technology with Human Phenotype Ontology (HPO) data analysis to quantify phenotypic similarity at both the level of individual patients as well as of cohorts.

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PhenoScore

PhenoScore logo PhenoScore is an open source, artificial intelligence-based phenomics framework that combines facial recognition technology with Human Phenotype Ontology (HPO) data analysis to quantify phenotypic similarity at both the level of individual patients as well as of cohorts.

Installing PhenoScore

To install PhenoScore using conda, it is advisable (but not strictly necessary) to create a new environment first:

conda create -n PhenoScore python=3.9

Then, activate the environment

conda activate PhenoScore

Install the needed dependencies using the requirements file:

pip install -r requirements.txt

And then install PhenoScore itself:

pip install .

If you get a numpy error when importing the module, reinstall numpy because of some compatibility issues, with:

pip uninstall numpy

pip install numpy==1.23.5

Optional:

To use the GPU (about a 10x performance increase when doing the LIME predictions) when CUDA is installed:

conda install cudnn

Running PhenoScore

To run the basic example analysis (looking at the two subgroups in SATB1), take a look at the tutorial in the notebooks directory.

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PhenoScore is an open source, artificial intelligence-based phenomics framework that combines facial recognition technology with Human Phenotype Ontology (HPO) data analysis to quantify phenotypic similarity at both the level of individual patients as well as of cohorts.

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