CNV-ClinViewer

CNV-ClinViewer enables clinical evaluation and interactive exploration of copy-number variants (CNVs) to support pathogenicity interpretation, genotype–phenotype analysis, and identification of potential therapeutic targets.

Key Features:

• Interactive visualization: Provides real-time interactive visualization of large CNV datasets for exploration and analysis.
• Genomic exploration: Enables comprehensive genomic exploration of CNVs and their genomic contexts.
• Standardized clinical interpretation: Integrates the ClassifCNV tool to provide semi-automated clinical interpretation of CNVs according to ACMG guidelines.
• Hypothesis generation and decision support: Combines automated analyses with clinical judgment to support hypothesis generation and decision-making.

Scientific Applications:

• Pathogenicity classification: Assists in classifying the pathogenicity of CNVs across clinical and research cohorts.
• Genotype–phenotype analyses: Supports detailed analyses linking CNVs to phenotypic manifestations.
• Therapeutic target identification: Facilitates identification of potential therapeutic targets through comprehensive CNV interpretation.

Methodology:

Integrates multiple data sources and leverages the ClassifCNV tool to provide semi-automated CNV interpretations aligned with ACMG guidelines.