PAGEANT

PAGEANT analyzes genetic data to interpret qualitative genetic characteristics and calculate polygenic risk scores for quantitative assessment of health risk susceptibility.

Key Features:

• Quality Assurance of Genetic Data: Performs integrity checks and quality assessment of input genetic information.
• Qualitative Assessment of Genetic Characteristics: Evaluates presence or absence of specific genetic traits from genomic data.
• Quantitative Assessment of Health Risk Susceptibility: Calculates polygenic risk scores and compares them against population references to assess disease susceptibility.
• Query of Third-Party Variant Databases: Cross-references variants with ClinVAR and PharmGKB for clinical and pharmacogenomic annotations.
• Quick Response Code Generation: Generates QR codes for specified genetic variants to enable compact encoding and sharing of variant data.

Scientific Applications:

• Interpretation of DTC Genetic Test Results: Provides qualitative and quantitative interpretation tailored to direct-to-consumer genetic datasets.
• GWAS Result Interpretation: Utilizes Genome-Wide Association Study findings to inform trait and risk assessments.
• Population Reference Analyses: Leverages public genome resources such as the 1000 Genomes Project to derive population-based genomic characteristics.
• Disease Susceptibility Assessment: Applies polygenic score-based analyses to assess susceptibility to diseases, including exemplified use for COVID-19 risk assessment from current findings.

Methodology:

Performs genetic data quality assurance; computes polygenic risk scores and compares them to population references (e.g., 1000 Genomes Project); queries ClinVAR and PharmGKB; interprets GWAS-derived associations; and generates QR codes for specified variants.