Author

Jacqueline A. L. MacArthur

European Bioinformatics InstituteORCID 0000-0002-3550-9769Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 3 Research Focus:database / resource· 3 Assay:GWAS summary statistics· 3 Organism:human· 3 Approach:benchmark study· 2 Research Focus:polygenic risk· 2 Research Focus:software / tool· 2 Assay:clinical cohort / trial· 1

Frequent Co-Authors

Helen ParkinsoniD· 3 shared Annalisa BunielloiD· 2 shared Aoife McMahoniD· 2 shared John DaneshiD· 2 shared Michael InouyeiD· 2 shared Samuel A. LambertiD· 2 shared A. Cecile J.W. JanssensiD· 1 shared Amit V. KheraiD· 1 shared

Activity by Year

2018-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Helen ParkinsonORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 10, 2021

✦ In-depth digest

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

Samuel A. Lambert, Laurent Gil, Simon Jupp…·Michael Inouye

PGS Catalog standardizes 192 curated polygenic scores and metadata (86 traits); reapplied in UK Biobank, eight of nine colorectal cancer scores predicted disease in European-ancestry participants.

713 citationstop 1%

humanGWAS summary statistics

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Genetic & Genomic MedicineNaturePeer-reviewedMar 10, 2021

✦ In-depth digest

Improving reporting standards for polygenic scores in risk prediction studies

Hannah Wand, Samuel A. Lambert, Cecelia P. Tamburro…·Genevieve L. Wojcik

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

476 citationstop 1%

humanGWAS summary statistics

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GeneticsGenome biologyPeer-reviewedFeb 15, 2018

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Joannella Morales, Danielle Welter, Emily Bowler-Barnett…·Jacqueline A. L. MacArthur

The paper introduces a standardized framework for ancestry data representation in genomics studies and applies it to the NHGRI-EBI GWAS Catalog to improve data integration and analysis.

217 citationstop 1%

humanGWAS summary statistics

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