Jacqueline A L MacArthur
Overview
Explore the profile of Jacqueline A L MacArthur including associated specialties, affiliations and a list of published articles.
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13
Citations
3465
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Recent Articles
1.
Williams M, MacArthur J, Forsyth R, Petersen S
Eur Heart J Imaging Methods Pract
. 2025 Mar;
3(1):qyaf012.
PMID: 40066149
Aims: Federated learning and the creation of synthetic data are emerging tools, which may enhance the use of imaging data in cardiovascular research. This study sought to understand the perspectives...
2.
Dixon W, van der Veer S, Ali S, Laidlaw L, Dobson R, Sudlow C, et al.
J Med Internet Res
. 2023 Feb;
25:e42449.
PMID: 36749628
The use of data from smartphones and wearable devices has huge potential for population health research, given the high level of device ownership; the range of novel health-relevant data types...
3.
Sollis E, Mosaku A, Abid A, Buniello A, Cerezo M, Gil L, et al.
Nucleic Acids Res
. 2022 Nov;
51(D1):D977-D985.
PMID: 36350656
The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare...
4.
MacArthur J, Buniello A, Harris L, Hayhurst J, McMahon A, Sollis E, et al.
Cell Genom
. 2022 Sep;
1(1).
PMID: 36082306
Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for...
5.
McMahon A, Lewis E, Buniello A, Cerezo M, Hall P, Sollis E, et al.
Cell Genom
. 2021 Dec;
1(1).
PMID: 34870259
Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants....
6.
Lambert S, Gil L, Jupp S, Ritchie S, Xu Y, Buniello A, et al.
Nat Genet
. 2021 Mar;
53(4):420-425.
PMID: 33692568
No abstract available.
7.
Ghoussaini M, Mountjoy E, Carmona M, Peat G, Schmidt E, Hercules A, et al.
Nucleic Acids Res
. 2020 Oct;
49(D1):D1311-D1320.
PMID: 33045747
Open Targets Genetics (https://genetics.opentargets.org) is an open-access integrative resource that aggregates human GWAS and functional genomics data including gene expression, protein abundance, chromatin interaction and conformation data from a wide...
8.
Buniello A, MacArthur J, Cerezo M, Harris L, Hayhurst J, Malangone C, et al.
Nucleic Acids Res
. 2018 Nov;
47(D1):D1005-D1012.
PMID: 30445434
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The...
9.
Morales J, Welter D, Bowler E, Cerezo M, Harris L, McMahon A, et al.
Genome Biol
. 2018 Feb;
19(1):21.
PMID: 29448949
The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no...
10.
Roberts A, Ware J, Herman D, Schafer S, Baksi J, Bick A, et al.
Sci Transl Med
. 2015 Jan;
7(270):270ra6.
PMID: 25589632
The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an abundant structural, sensory, and signaling filament in muscle) as a common cause of end-stage dilated cardiomyopathy (DCM)...