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
For a detailed description of how to use PyHPO, visit the PyHPO Documentation.
from pyhpo.ontology import Ontology # initilize the Ontology (you can specify config parameters if needed here) _ = 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 by term name term = Ontology.get_hpo_object('Scoliosis') # ...or via shortcut term = Ontology
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', 'Scoliosis' ) # or use HP identifiers Ontology.path( 'Abnormality of the nervous system', 'HP:0002650' )
Working with terms
# Get a single HPO Term: term = Ontology.get_hpo_object('HP:0002650') # 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() # Remove HPO modifier terms new_ci = clinical_info.remove_modifier() # Calculate the similarity of two Sets sim_score = clinical_info.similarity(other_set)
PyHPO includes some basic statics method for gene, disease and HPO-Term enrichment analysis.
# Let's say you have a patient with a couple of symptoms and # you want to find out the most likely affected genes # or most likely diseases from pyhpo import stats from pyhpo.ontology import Ontology from pyhpo.set import HPOSet, BasicHPOSet _ = Ontology() hpo_terms = [ 'Decreased circulating antibody level', 'Abnormal immunoglobulin level', 'Abnormality of B cell physiology', 'Abnormal lymphocyte physiology', 'Abnormality of humoral immunity', 'Lymphoma', 'Lymphopenia', 'Autoimmunity', 'Increased circulating IgG level', 'Abnormal lymphocyte count' ] # you can either use a HPOSet for this hposet = HPOSet.from_queries(hpo_terms) # or just a plain list of HPO Terms hposet = [Ontology.match(q) for q in hpo_terms] # Initialize an Enrichment model for genes gene_model = stats.EnrichmentModel('gene') # You can also do enrichment for diseases disease_model = stats.EnrichmentModel('omim') # Calculate the Hypergeometric distribution test enrichment gene_results = gene_model.enrichment( 'hypergeom', hposet ) disease_results = disease_model.enrichment( 'hypergeom', hposet ) # and print the Top-10 results for x in gene_results[0:10]: print(x) for x in disease_results[0:10]: print(x)
and many more examples in the PyHPO Documentation
Yes, please do so. We 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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