Jacqueline Ann Langdon MacArthur
Jacqueline Ann Langdon MacArthur
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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
A Buniello, JAL MacArthur, M Cerezo, LW Harris, J Hayhurst, ...
Nucleic acids research 47 (D1), D1005-D1012, 2019
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
PH Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A ...
Nucleic Acids Res, 2014
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
J MacArthur, E Bowler, M Cerezo, L Gil, P Hall, E Hastings, H Junkins, ...
Nucleic acids research 45 (D1), D896-D901, 2017
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
E Sollis, A Mosaku, A Abid, A Buniello, M Cerezo, L Gil, T Groza, O Güneş, ...
Nucleic acids research 51 (D1), D977-D985, 2023
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ...
Science translational medicine 7 (270), 270ra6-270ra6, 2015
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation
SA Lambert, L Gil, S Jupp, SC Ritchie, Y Xu, A Buniello, A McMahon, ...
Nature Genetics 53 (4), 420-425, 2021
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics
M Ghoussaini, E Mountjoy, M Carmona, G Peat, EM Schmidt, A Hercules, ...
Nucleic acids research 49 (D1), D1311-D1320, 2021
Improving reporting standards for polygenic scores in risk prediction studies
H Wand, SA Lambert, C Tamburro, MA Iacocca, JW O’Sullivan, C Sillari, ...
Nature 591 (7849), 211-219, 2021
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
J Morales, D Welter, EH Bowler, M Cerezo, LW Harris, AC McMahon, ...
Genome biology 19, 1-10, 2018
A catalog of published genome-wide association studies. 2011
LA Hindorff, J MacArthur, J Morales, HA Junkins, PN Hall, AK Klemm, ...
Ref Type: Generic, 2011
The NHGRI-EBI Catalog of published genome-wide association studies
T Burdett, PN Hall, E Hastings, LA Hindorff, HA Junkins, AK Klemm, ...
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
JAL MacArthur, J Morales, RE Tully, A Astashyn, L Gil, EA Bruford, ...
Nucleic acids research 42 (D1), D873-D878, 2014
Scaling up data curation using deep learning: an application to literature triage in genomic variation resources
K Lee, ML Famiglietti, A McMahon, CH Wei, JAL MacArthur, S Poux, ...
PLoS computational biology 14 (8), e1006390, 2018
MEG-SIM: a web portal for testing MEG analysis methods using realistic simulated and empirical data
CJ Aine, L Sanfratello, D Ranken, E Best, JA MacArthur, T Wallace, ...
Neuroinformatics 10, 141-158, 2012
Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A catalog of published genome-wide association studies
LA Hindorff, J MacArthur
Disponible sur: http://www. genome. gov/gwastudies/[Accédé le: April 9, 2013], 2012
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
WS Oetting, PN Robinson, MS Greenblatt, RG Cotton, T Beck, JC Carey, ...
Human mutation 34 (4), 661-666, 2013
Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene
B Ottolini, MJ Hornsby, R Abujaber, JAL MacArthur, RM Badge, ...
Genome biology and evolution 6 (11), 3025-3038, 2014
The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age
JAL MacArthur, TD Spector, SJ Lindsay, M Mangino, R Gill, KS Small, ...
PLoS genetics 10 (3), e1004195, 2014
Workshop proceedings: GWAS summary statistics standards and sharing
JAL MacArthur, A Buniello, LW Harris, J Hayhurst, A McMahon, E Sollis, ...
Cell Genomics 1 (1), 2021
Sequencing-based genome-wide association studies reporting standards
A McMahon, E Lewis, A Buniello, M Cerezo, P Hall, E Sollis, H Parkinson, ...
Cell Genomics 1 (1), 2021
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