Variant Interpretation Model in SHACL

This folder contains code for describing the Variant Interpretation Model using SHACL.

Requirements

• jq to transform the examples JSON file for processing.
• jsonld-cli to convert JSON-LD into triples.
• rapper from Raptor RDF Syntax Library to convert triples into Turtle.
• pySHACL to validate Turtle against SHACL shapes.

When loading in Protege

1. Load the examples.ttl file.
2. Directly import the SEPIO ACMG Profile Ontology (this will import SEPIO as well).
3. Directly import the ClinGen Terms Ontology.