ANSWER

ANSWER annotates and prioritizes clinically actionable genetic variants from next-generation sequencing (NGS) data to support clinical genomic reporting and precision oncology treatment decisions.

Key Features:

• Variant Filtering and Quality Control: Filters genetic variants by quality-control metrics within clinically actionable genes to retain high-confidence variants for reporting.
• Data Visualization: Provides visualization of bioinformatics data to aid interpretation of variant significance and potential treatment impact.
• Annotation Creation and Reusability: Creates detailed annotations linked to genes, variants, or diagnoses and enables reuse of those annotations across reports.
• Customizable Reporting: Enables selection of specific variants and annotations to generate case-tailored reports that align genomic findings with patient clinical context.
• Report Generation and Export: Produces reports containing patient demographics, identified variants, clinical actionability annotations, and references, and exports reports in PDF or HL7 formats.

Scientific Applications:

• Oncology precision medicine: Aids clinical NGS laboratories in interpreting genomic data to identify actionable mutations and support formulation of targeted treatment plans.

Methodology:

Uses MySQL and MongoDB for data storage and implements database querying in Python.