VCF-DART

VCF-DART annotates and prioritizes genetic variants in Variant Call Format (VCF) derived from next-generation sequencing (NGS) exome and genome data to support clinical variant interpretation.

Key Features:

• Customizable analysis pipeline: Uses custom gene lists to categorize variants into analysis tiers for targeted interpretation.
• Variant annotation and reporting: Integrates publicly available databases to annotate variants and support classification and curation.
• Variant prioritization and subcategorization: Applies standard parameters to prioritize variants based on clinical relevance and subcategorize them for downstream analysis.
• Robust logging system: Records analysis parameters and database versions to support reproducibility and comparison across analyses.
• VCF input support: Processes Variant Call Format (VCF) files from exome and genome NGS datasets.

Scientific Applications:

• Clinical genetics and diagnostics: Supports identification and reporting of pathogenic and clinically relevant variants from exome and genome sequencing.
• Variant classification and curation: Facilitates integration of public database annotations into diagnostic variant classification and curation workflows.
• Genomic medicine and diagnostic reporting: Enables prioritization of variants for diagnostic reporting and genomic medicine decision-making.

Methodology:

Processes VCFs from exome/genome NGS, applies custom gene lists and standard parameters to prioritize and subcategorize variants, annotates variants using publicly available databases, and logs parameters and database versions.