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Patient phenotype and genotype similarity

This package is research code designed to measure the similarity between patients, using both phenotype (specified as Human Phenotype Ontology terms) and genotype (specified as the Exomiser-processed results of whole-exome VCF files).

Usage example

# Run on example data (expected output in test/test.out)
./patient_similarity.py --log=INFO -s simgic test/test.hpo \
  data/hp.obo data/phenotype_annotation.tab

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Phenotype and genotype-based patient similarity

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  • Python 99.0%
  • R 1.0%