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

Samuel A Lambert; Laurent Gil; Simon Jupp; Scott C Ritchie; Yu Xu; Annalisa Buniello; Aoife McMahon; Gad Abraham; Michael Chapman; Helen Parkinson; John Danesh; Jacqueline A L MacArthur; Michael Inouye

doi:10.1038/s41588-021-00783-5

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.

PMID: 33692568
DOI: 10.1038/s41588-021-00783-5

No abstract available

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*

Publication types

MeSH terms

Grants and funding