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

Nat Genet. 2021 Apr;53(4):420-425. doi: 10.1038/s41588-021-00783-5.

Authors

Samuel A Lambert^{1

2

3

4}, Laurent Gil^{5

6

7}, Simon Jupp⁸, Scott C Ritchie^{9

5

10

11}, Yu Xu^{9

5}, Annalisa Buniello⁸, Aoife McMahon⁸, Gad Abraham^{9

12}, Michael Chapman^{5

6

7}, Helen Parkinson^{6

8}, John Danesh^{5

6

7

10

11

13}, Jacqueline A L MacArthur¹⁴, Michael Inouye^{15

16

17

18

19

20

21}

Affiliations

¹ Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. sl925@medschl.cam.ac.uk.
² British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. sl925@medschl.cam.ac.uk.
³ Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, UK. sl925@medschl.cam.ac.uk.
⁴ European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK. sl925@medschl.cam.ac.uk.
⁵ British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
⁶ Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, UK.
⁷ Wellcome Sanger Institute, Hinxton, UK.
⁸ European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
⁹ Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
¹⁰ National Institute for Health Research Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
¹¹ British Heart Foundation Cambridge Centre of Research Excellence, Department of Clinical Medicine, University of Cambridge, Cambridge, UK.
¹² Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia.
¹³ NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
¹⁴ European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK. jalm@ebi.ac.uk.
¹⁵ Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. mi336@medschl.cam.ac.uk.
¹⁶ British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. mi336@medschl.cam.ac.uk.
¹⁷ Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, UK. mi336@medschl.cam.ac.uk.
¹⁸ National Institute for Health Research Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. mi336@medschl.cam.ac.uk.
¹⁹ British Heart Foundation Cambridge Centre of Research Excellence, Department of Clinical Medicine, University of Cambridge, Cambridge, UK. mi336@medschl.cam.ac.uk.
²⁰ Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia. mi336@medschl.cam.ac.uk.
²¹ The Alan Turing Institute, London, UK. mi336@medschl.cam.ac.uk.

Abstract

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Benchmarking
Colorectal Neoplasms / genetics*
Colorectal Neoplasms / metabolism
Colorectal Neoplasms / pathology
Computational Biology / methods
Databases, Genetic*
Female
Genetic Predisposition to Disease
Genome, Human
Genome-Wide Association Study
Humans
Male
Metadata / statistics & numerical data*
Multifactorial Inheritance*
Reproducibility of Results
Software*

Abstract

Publication types

MeSH terms

Grants and funding