The Polygenic Score Catalog: new functionality and tools to enable FAIR research

The Polygenic Score Catalog: new functionality and tools to enable FAIR research

May 31, 2024 | Samuel A. Lambert, Benjamin Wingfield, Joel T. Gibson, Laurent Gil, Santhi Ramachandran, Florent Yvon, Shirin Saverimuttu, Emily Tinsley, Elizabeth Lewis, Scott C. Ritchie, Jingqin Wu, Rodrigo Canovas, Aoife McMahon, Laura W. Harris, Helen Parkinson, Michael Inouye
The Polygenic Score Catalog (PGSC) has significantly expanded its data content and functionality, becoming the largest FAIR (Findable, Accessible, Interoperable, Reusable) repository of polygenic scores (PGS). The catalog now includes 4,735 PGS from 618 publications, a 721% increase since its inception. New features include expanded data content, ancestral diversity, and the addition of the PGS Catalog Calculator (pgsc_calc), an open-source pipeline for reproducible PGS calculation. The calculator addresses key challenges in PGS application by implementing genetic ancestry estimation and score normalization using reference data, ensuring equitable and secure PGS applications. Users can now quantify an individual's genetic predisposition for hundreds of common diseases and clinically relevant traits. The PGS Catalog and calculator facilitate the next generation of PGS research and clinical studies, lowering barriers to integrating PGS into clinical practice. The catalog continues to evolve, focusing on increasing ancestral diversity and improving documentation and user support.The Polygenic Score Catalog (PGSC) has significantly expanded its data content and functionality, becoming the largest FAIR (Findable, Accessible, Interoperable, Reusable) repository of polygenic scores (PGS). The catalog now includes 4,735 PGS from 618 publications, a 721% increase since its inception. New features include expanded data content, ancestral diversity, and the addition of the PGS Catalog Calculator (pgsc_calc), an open-source pipeline for reproducible PGS calculation. The calculator addresses key challenges in PGS application by implementing genetic ancestry estimation and score normalization using reference data, ensuring equitable and secure PGS applications. Users can now quantify an individual's genetic predisposition for hundreds of common diseases and clinically relevant traits. The PGS Catalog and calculator facilitate the next generation of PGS research and clinical studies, lowering barriers to integrating PGS into clinical practice. The catalog continues to evolve, focusing on increasing ancestral diversity and improving documentation and user support.
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Understanding The Polygenic Score Catalog%3A new functionality and tools to enable FAIR research