Roadmap

The Roadmap is a rough plan, changes are expected throughout the year.

2023

Q1

1. Finalising the PhEval architecture (draft is done)
2. End-to-end pipeline for testing PhEval with Exomiser and two versions of HPO
3. Submitting a poster to Biocuration which outlines the full vision

Q2

1. Focus on an analytic framework around PhEval, focusing on studying how changes to ontologies affect changes in variant prioritisation
2. Extend phenotype pipeline to enable base releases and alternative patterns

Q3

1. Improving the analytic framework of PhEval, especially phenotype analysis
2. All intermediate files of pipeline have a corresponding LinkML model
3. Focus on studying the effect of KG snippets (p2ds) on VP performance

Q4

1. Drafting a PhEval paper
2. Building standalone pipeline that reports changes in algorithm behaviours to ontology developers.