Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization

Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization

Polygenic scores (PGSs) have transformed human genetic research and have numerous potential clinical applications. Here we present a series of recent enhancements to the PGS Catalog and highlight the PGS Catalog Calculator, an open-source, scalable and portable pipeline for reproducibly calculating...

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Veröffentlicht in:Nature genetics 2024-09, Vol.56 (10), p.1989-1994
Hauptverfasser: Lambert, Samuel A., Wingfield, Benjamin, Gibson, Joel T., Gil, Laurent, Ramachandran, Santhi, Yvon, Florent, Saverimuttu, Shirin, Tinsley, Emily, Lewis, Elizabeth, Ritchie, Scott C., Wu, Jingqin, Cánovas, Rodrigo, McMahon, Aoife, Harris, Laura W., Parkinson, Helen, Inouye, Michael
Format: Artikel
Sprache:eng
Schlagworte:
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Agriculture
Animal Genetics and Genomics
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Business metrics
Cancer Research
Comment
Gene Function
Genetic analysis
Genetic diversity
Genomes
Human Genetics
Metadata
Population genetics
Population studies
Software
User requirements
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Zusammenfassung:Polygenic scores (PGSs) have transformed human genetic research and have numerous potential clinical applications. Here we present a series of recent enhancements to the PGS Catalog and highlight the PGS Catalog Calculator, an open-source, scalable and portable pipeline for reproducibly calculating PGSs that democratizes equitable PGS applications.
ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/s41588-024-01937-x