The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

We present the Polygenic Score (PGS) Catalog ( https://www.PGSCatalog.org ), an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications. The PGS Catalog has capabilities for user depositio...

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Veröffentlicht in:	Nature genetics 2021-04, Vol.53 (4), p.420-425
Hauptverfasser:	Lambert, Samuel A., Gil, Laurent, Jupp, Simon, Ritchie, Scott C., Xu, Yu, Buniello, Annalisa, McMahon, Aoife, Abraham, Gad, Chapman, Michael, Parkinson, Helen, Danesh, John, MacArthur, Jacqueline A. L., Inouye, Michael
Format:	Artikel
Sprache:	eng
Schlagworte:	45/43 631/114/2785 631/208/205 631/208/212 692/699 Agriculture Alzheimer's disease Animal Genetics and Genomics Benchmarking Biomedical and Life Sciences Biomedicine Body mass index Breast cancer Business metrics Cancer Research Cardiovascular disease Colorectal Neoplasms - genetics Colorectal Neoplasms - metabolism Colorectal Neoplasms - pathology Comment Computational Biology - methods Coronary artery Coronary artery disease Coronary vessels Databases, Genetic Diabetes mellitus Epidemiology Female Gene Function Genealogy Genetic Predisposition to Disease Genetic research Genome, Human Genome-Wide Association Study Heart diseases Human Genetics Humans Literature reviews Male Metadata Metadata - statistics & numerical data Multifactorial Inheritance Multifactorial traits Neurodegenerative diseases Online databases Ontology Polygenic inheritance Prostate cancer Public health Reproducibility Reproducibility of Results Software Statistical methods Validity
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Zusammenfassung:	We present the Polygenic Score (PGS) Catalog ( https://www.PGSCatalog.org ), an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications. The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with a platform for PGS dissemination, research and translation.
ISSN:	1061-4036 1546-1718 1546-1718
DOI:	10.1038/s41588-021-00783-5