PRSKB

PRSKB calculates polygenic risk scores by aggregating genome-wide association (GWA) study findings to quantify genetic predisposition to complex traits and diseases.

Key Features:

• Centralized Database: Integrates over 2,300 GWA studies from the NHGRI-EBI GWAS Catalog to serve as a reference for score computation.
• Polygenic Risk Score Computation: Computes polygenic risk scores using findings from GWA studies and user-defined parameters.
• Customizable Calculations: Accepts user-supplied data and parameter specification to tailor PRS calculations to specific diseases or study questions.
• Cross-study Contextualization: Contextualizes PRS results across multiple studies to compare genetic risk profiles.
• Confounding Factor Identification: Supports identification of potential confounding factors in genetic analyses as demonstrated in applied datasets.

Scientific Applications:

• Genetic Risk Assessment: Aggregates genetic effects across loci to estimate individual and population-level predisposition to complex traits and diseases.
• Comparative Study Analysis: Enables comparison and contextualization of PRS across studies and cohorts such as the U.K. Biobank, 1000 Genomes Project, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI).
• Confounder Exploration: Facilitates detection and analysis of potential confounding factors in PRS-based studies.

Methodology:

PRSKB leverages findings from GWA studies to compute polygenic risk scores based on user-defined parameters and to contextualize scores across specified studies, enabling identification of potential confounding factors.