AI-Assisted Interpretation System
In development
AI-assisted systems for automated variant interpretation and decision support.
Tools and Software
Software systems that support clinical genomics interpretation workflows and large-scale genomic analysis.
AI & Data Science
Literature-driven Phenotype Extraction
In development
LLM-based literature analysis for phenotype-driven gene prioritisation.
Variant Interpretation
AutoACMG
Automated ACMG/AMP classification frameworks for consistent variant interpretation.
Clinical Reporting Tools
Integration of variant interpretation into clinical reporting systems.
Variant Prioritisation Pipeline
Variant prioritisation workflows for rare disease diagnosis and clinical sequencing.
Genomic Analysis
Population Variant Annotation
Population variant annotation workflows for large-scale genomic datasets.
Rare Disease Analysis Pipeline
End-to-end rare disease analysis pipelines with sequencing platform integration.