PGS Catalog

PGS Catalog provides a curated repository of polygenic scores and associated metadata to support reproducible calculation, evaluation, and comparison of genetic risk predictors for common diseases and traits such as diabetes, cardiovascular diseases, neurological disorders, cancers, body mass index (BMI), and blood lipid levels.

Key Features:

• Content: Contains 192 published polygenic scores derived from 78 publications covering 86 traits, including diabetes, cardiovascular diseases, neurological disorders, cancers, BMI, and blood lipid levels.
• Metadata annotation: Annotates each polygenic score with development process details and evaluation techniques required for replication and application.
• Systematic evaluation: Generates comparable performance metrics across multiple PGS to enable benchmarking and refinement of scores.
• Data deposition and curation: Supports deposition of new polygenic scores and expert curation to maintain standardized metadata.
• Programmatic access: Provides programmatic access for integration of scores and metadata into analysis workflows.

Scientific Applications:

• Risk prediction and trait association: Facilitates calculation and comparison of genetic risk predictors for diseases and traits including diabetes, cardiovascular disease, neurological disorders, cancers, BMI, and blood lipid levels.
• Reproducibility and replication: Supports reproducible application and independent replication of polygenic scores by providing standardized metadata.
• Benchmarking and method development: Enables benchmarking of PGS performance across studies to inform refinement of score construction and evaluation methods.
• Integration into computational analyses: Allows incorporation of curated PGS and metadata into cross-study evaluations and analysis pipelines via programmatic access.

Methodology:

Annotation of each polygenic score with development and evaluation metadata; generation of comparable performance metrics across multiple PGS for systematic evaluation; programmatic access for integration; and expert curation alongside user deposition.