Vanno

Vanno integrates and annotates genomic variants to enable evaluation of disease-causative sequence alterations from next-generation sequencing (NGS), including exome and targeted sequencing.

Key Features:

• Integration of biomedical databases and models: Consolidates information from diverse biomedical databases and functional prediction models for variant annotation.
• TCGA-derived mutation landscapes: Incorporates mutation landscapes derived from The Cancer Genome Atlas (TCGA) cancer types for cancer-relevant variant context.
• Analytical modules: Provides computational modules for filtering, sorting, clustering, and visual analytics of variant data.
• Multi-level exploration: Enables analysis of sequence alterations at the gene, variant, protein domain, and three-dimensional structure levels.
• Support for NGS panels: Targets analysis for exome and targeted sequencing and supports interpretation for disease-associated gene tests and exome sequencing panels.

Scientific Applications:

• Oncogenomics: Analysis of somatic and cancer-associated variants using TCGA-derived mutation landscapes and integrated annotations.
• Clinical diagnostics: Evaluation and prioritization of disease-causative variants from exome and targeted NGS for diagnostic interpretation.
• Variant interpretation and gene discovery: Identification and validation support for disease-associated genes and potentially causative sequence alterations.

Methodology:

Consolidation of biomedical databases and functional prediction models with incorporation of TCGA-derived mutation landscapes; computational modules for filtering, sorting, clustering, and visual analytics; multi-level variant exploration at gene, variant, protein domain, and three-dimensional structure scales.