ClinSV

ClinSV detects structural variants (SVs) and copy number variants (CNVs) from whole genome sequencing (WGS) data to enable clinical-grade identification and prioritization of pathogenic genomic variants.

Key Features:

• Integration and Annotation: Integrates WGS-derived signals to detect SVs and CNVs and provides comprehensive variant annotations.
• Prioritization and Visualization: Prioritizes detected variants by clinical significance and provides visualization to aid interpretation of genomic events.
• High Detection Accuracy: Detected 99.8% of simulated pathogenic CNVs greater than 10 kb from ClinVar and recovered all 11 pathogenic variants in matched microarray datasets.
• Low False Positive Rate: Maintains a reported false positive rate of 1.5-4.5%.
• Reproducibility: Exhibits reported reproducibility between 95-99%.

Scientific Applications:

• Clinical diagnostics: Identified reportable variants in 4.7% (22/485) of analyzed patients, supporting clinical genomic interpretation.
• Microarray complementarity: Detects variants frequently missed by clinical microarray, with 35-63% of reportable variants being undetectable by current clinical microarray technologies.

Methodology:

ClinSV analyzes whole genome sequencing (WGS) data by integrating, annotating, prioritizing, and visualizing structural variants (SVs) and copy number variants (CNVs).