A Python package to work with the HPO Ontology
A Python library to work with, analyze, filter and inspect the Human Phenotype Ontology
Visit the PyHPO Documentation for a more detailed overview of all the functionality.
It allows working on individual terms HPOTerm, a set of terms HPOSet and the full Ontology.
Internally the ontology is represented as a branched linked list, every term contains pointers to its parent and child terms. This allows fast tree traversal functioanlity.
The library is helpful for discovery of novel gene-disease associations and GWAS data analysis studies. At the same time, it can be used for oragnize clinical information of patients in research or diagnostic settings.
It provides an interface to create Pandas Dataframe from its data, allowing integration in already existing data anlysis tools.
An individual HPOTerm contains all info about itself as well as pointers to its parents and its children. You can access its information-content, calculate similarity scores to other terms, find the shortest or longes connection between two terms. List all associated genes or diseases, etc.
An HPOSet can be used to represent e.g. a patient’s clinical information. It allows some basic filtering and comparisons to other HPOSet s.
The Ontology represents all HPO terms and their connections and associations. It also contains pointers to associated genes and disease.
Installation / Setup
The easiest way to install PyHPO is via pip
pip install pyhpo
Some features of PyHPO require pandas. The standard installation via pip will not include pandas and PyHPO will work just fine. (You will get a warning on the initial import though). As long as you don’t try to create a pandas.DataFrame, everything should work without pandas. If you want to use all features, install pandas yourself:
pip install pandas
For a detailed description of how to use PyHPO, visit the PyHPO Documentation.
from pyhpo.ontology import Ontology ontology = Ontology() # Iterate through all HPO terms for term in ontology: # do something, e.g. print(term.name)
There are multiple ways to retrieve a single term out of an ontology:
# Retrieve a term via its HPO-ID term = ontology.get_hpo_object('HP:0002650') # ...or via the Integer representation of the ID term = ontology.get_hpo_object(2650) # ...or via shortcut term = ontology # ...or by term name term = ontology.get_hpo_object('Scoliosis')
You can also do substring search on term names and synonyms:
# ontology.search returns an Iterator over all matches for term in ontology.search('Abn'): print(term.name)
Find the shortest path between two terms:
ontology.path( 'Abnormality of the nervous system', 'HP:0002650' )
Working with terms
# check the relationship of two terms term.path_to_other(ontology) # get the information content for OMIM diseases term.information_content['omim'] # ...or for genes term.information_content['genes'] # compare two terms term.similarity_score(term2, method='resnik', kind='gene')
Working with sets
# Create a clinical information set of HPO Terms clinical_info = pyhpo.HPOSet([ ontology, ontology, ontology.get_hpo_object(2650) ]) # Extract only child nodes and leave out all parent terms children = clinical_info.child_nodes() # Calculate the similarity of two Sets sim_score = clinical_info.similarity(other_set)
and many more examples in the PyHPO Documentation
Yes, please do so. I would appreciate any help, suggestions for improvement or other feedback. Just create a pull-request or open an issue.
PyHPO is released under the MIT license.
PyHPO is using the Human Phenotype Ontology. Find out more at http://www.human-phenotype-ontology.org
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, et al. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research. (2018) doi: 10.1093/nar/gky1105
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