XPRS

XPRS decomposes polygenic risk scores into gene/region and single nucleotide polymorphism contribution scores using Shapley Additive Explanations to enhance interpretability of genetic susceptibility assessments.

Key Features:

• SHAP-based Decomposition: Decomposes polygenic risk scores into gene/region and single nucleotide polymorphism contribution scores via Shapley additive explanations.
• Multilevel Visualization: Provides Manhattan plots, LocusZoom-like plots, and tables at population and individual levels to highlight important genes and single nucleotide polymorphisms.

Scientific Applications:

• Polygenic Risk Score Interpretation: Identifies specific genes and single nucleotide polymorphisms that significantly contribute to an individual's polygenic risk score.
• Clinical Communication: Bridges complex genetic data and actionable clinical insights to improve communication between clinicians and patients regarding genetic susceptibility to diseases.

Methodology:

Shapley additive explanations are used to decompose polygenic risk scores into gene/region and single nucleotide polymorphism contribution scores.