Clinical NGS DB

Clinical NGS DB manages and analyzes clinical next-generation sequencing (NGS) variants and associated phenotype data to support variant pathogenicity interpretation and unified dataset management.

Key Features:

• Unified Management: Consolidates variant and clinical data from public population databases and disease-specific public or commercial resources into a single repository.
• Phenotype Similarity-Based Approach: Computes phenotype similarity between individual patients and average phenotypes at the variant and gene levels to identify patients with similar genetic mutations.
• Statistical Approach Using Odds Ratio: Calculates odds ratios comparing cases to controls across inheritance modes, including autosomal dominant and autosomal recessive, to support statistical classification of variant pathogenicity.

Scientific Applications:

• Variant Pathogenicity Classification: Integrates phenotype similarity and odds-ratio comparisons to accelerate classification of variant pathogenicity.
• Clinical Genetics and Diagnosis: Supports genetic diagnosis and interpretation of NGS results to inform clinical genetic assessment and personalized treatment planning.

Methodology:

Integrates datasets from public population databases and disease-specific public or commercial resources; performs phenotype similarity comparisons at variant and gene levels; conducts odds-ratio statistical analyses comparing cases and controls across inheritance modes, including autosomal dominant and autosomal recessive.