quincunx

Quincunx: R interface to the Polygenic Score (PGS) Catalog REST API

Quincunx provides programmatic access to the Polygenic Score (PGS) Catalog, enabling querying, retrieval, and processing of curated polygenic scores and associated metadata from published studies.

Key Features:

• REST API Integration: Interfaces directly with the PGS Catalog REST API to retrieve polygenic scores and related records.
• Data Querying and Filtering: Supports structured queries and filtering to extract specific polygenic scores and metadata fields.
• Metadata Handling: Integrates score-level, publication-level, and trait-level metadata for downstream analysis.
• Tidy Data Output: Formats polygenic scoring files and metadata as tidy tables for analysis within R workflows.

Scientific Applications:

• Polygenic Risk Analysis: Enables retrieval of polygenic scores for studies of genetic predisposition, complex trait heritability, and disease risk modeling.

Methodology:

Implements structured queries to the PGS Catalog REST API, parses returned JSON records, and converts polygenic score data and metadata into standardized tabular formats suitable for large-scale genomic data analysis.