AnFiSA

AnFiSA analyzes and curates genomic variants to support variant interpretation for rare genetic disease research and clinical diagnostics.

Key Features:

• Integration of Clinical and Research Workflows: Supports both clinical and research variant-analysis workflows to accommodate diagnostic and discovery use cases in genomic sequencing.
• Crowdsourcing Capability: Enables collaborative variant curation and case review across clinicians, researchers, and developers to assist difficult-to-diagnose cases.
• Forward-Compatible Architecture: Implements a multidimensional database management system (DBMS) to maintain reproducibility and adapt to evolving diagnostic rules and updates of genomics databases.
• Curated Decision Trees: Provides adaptable, curator-editable decision trees for filtering and prioritizing variants according to updated clinical guidelines.
• Explainability for Clinicians: Produces explainable outputs that clarify variant-filtering decisions to support clinical interpretation.

Scientific Applications:

• Rare Genetic Disease Diagnosis: Supports interpretation and curation of variants for diagnosis, genetic counseling, and treatment planning in rare genetic diseases.
• Clinical Genomics Diagnostics: Integrates research-derived variant evidence into clinical workflows for diagnostics in hospital settings where genomic sequencing is routine.
• Personalized Medicine and Research: Facilitates reproducible variant analysis to enable personalized medicine approaches and study of complex genetic disorders.

Methodology:

Employs a multidimensional DBMS and curator-editable decision trees to enable reproducible variant filtering and adaptation to updates in genomics databases.