Search for genotype-phenotype correlations with GA4GH phenopackets
Project description
Genophenocorr is a Python library for genotype-phenotype association analysis.
An example of simple genotype-phenotype association analysis
# Load HPO
import hpotk
hpo = hpotk.load_minimal_ontology('http://purl.obolibrary.org/obo/hp.json')
# Load a cohort of phenopackets
from genophenocorr.data import get_toy_cohort
cohort = get_toy_cohort()
# Analyze genotype-phenotype associations
from genophenocorr.analysis import CohortAnalysis
from genophenocorr.constants import VariantEffect
cohort_analysis = CohortAnalysis(cohort, 'NM_1234.5', hpo)
frameshift = cohort_analysis.compare_by_variant_type(VariantEffect.FRAMESHIFT_VARIANT)
print(frameshift)
prints a table with genotype-phenotype correlations:
With frameshift_variant Without frameshift_variant
Count Percent Count Percent p-value
HP:0001166 (Arachnodactyly) 4 30.77% 10 76.92% 0.04718
HP:0001250 (Seizure) 11 84.62% 9 69.23% 0.64472
HP:0001257 (Spasticity) 8 61.54% 9 69.23% 1.00000
Documentation
Check out the User guide and the API reference for more info:
- Stable documentation (last release on
main
branch) - Latest documentation (bleeding edge, latest commit on
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