SvAnna

SvAnna predicts the pathogenicity of structural variants (SVs) from long-read genome sequencing and prioritizes candidate SVs implicated in Mendelian diseases.

Key Features:

• Comprehensive Detection: Assesses all classes of structural variants to provide a genome-wide evaluation of SVs.
• Intersection Analysis: Evaluates intersections of SVs with transcripts and regulatory sequences to determine potential impacts on gene function.
• Clinical Correlation: Relates predicted effects on gene function to clinical phenotype data to support diagnostic interpretation.
• Prioritization Efficiency: Ranks deleterious SVs with 87% placed within the top ten candidate variants.

Scientific Applications:

• Genetic diagnostics: Prioritizes candidate SVs from long-read sequencing for diagnosis of Mendelian disorders.
• Mendelian disease research: Facilitates investigation of SV contribution to disease by linking SVs to transcriptomic and regulatory disruption.

Methodology:

Systematic assessment of structural variants across genomic contexts integrating transcriptomic and regulatory information with clinical phenotype data.