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2004 1
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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, McMahon A, Morales J, Mountjoy E, Sollis E, Suveges D, Vrousgou O, Whetzel PL, Amode R, Guillen JA, Riat HS, Trevanion SJ, Hall P, Junkins H, Flicek P, Burdett T, Hindorff LA, Cunningham F, Parkinson H. Buniello A, et al. Nucleic Acids Res. 2019 Jan 8;47(D1):D1005-D1012. doi: 10.1093/nar/gky1120. Nucleic Acids Res. 2019. PMID: 30445434 Free PMC article.
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.
Mountjoy E, Schmidt EM, Carmona M, Schwartzentruber J, Peat G, Miranda A, Fumis L, Hayhurst J, Buniello A, Karim MA, Wright D, Hercules A, Papa E, Fauman EB, Barrett JC, Todd JA, Ochoa D, Dunham I, Ghoussaini M. Mountjoy E, et al. Among authors: buniello a. Nat Genet. 2021 Nov;53(11):1527-1533. doi: 10.1038/s41588-021-00945-5. Epub 2021 Oct 28. Nat Genet. 2021. PMID: 34711957 Free PMC article.
Sequencing-based genome-wide association studies reporting standards.
McMahon A, Lewis E, Buniello A, Cerezo M, Hall P, Sollis E, Parkinson H, Hindorff LA, Harris LW, MacArthur JAL. McMahon A, et al. Among authors: buniello a. Cell Genom. 2021 Oct 13;1(1):100005. doi: 10.1016/j.xgen.2021.100005. Cell Genom. 2021. PMID: 34870259 Free PMC article.
A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance.
Anisul M, Shilts J, Schwartzentruber J, Hayhurst J, Buniello A, Shaikho Elhaj Mohammed E, Zheng J, Holmes M, Ochoa D, Carmona M, Maranville J, Gaunt TR, Emilsson V, Gudnason V, McDonagh EM, Wright GJ, Ghoussaini M, Dunham I. Anisul M, et al. Among authors: buniello a. Elife. 2021 Aug 17;10:e69719. doi: 10.7554/eLife.69719. Elife. 2021. PMID: 34402426 Free PMC article.
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD. Nyegaard M, et al. Among authors: buniello a. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul. PLoS Genet. 2015. PMID: 26197441 Free PMC article.
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.
Ghoussaini M, Mountjoy E, Carmona M, Peat G, Schmidt EM, Hercules A, Fumis L, Miranda A, Carvalho-Silva D, Buniello A, Burdett T, Hayhurst J, Baker J, Ferrer J, Gonzalez-Uriarte A, Jupp S, Karim MA, Koscielny G, Machlitt-Northen S, Malangone C, Pendlington ZM, Roncaglia P, Suveges D, Wright D, Vrousgou O, Papa E, Parkinson H, MacArthur JAL, Todd JA, Barrett JC, Schwartzentruber J, Hulcoop DG, Ochoa D, McDonagh EM, Dunham I. Ghoussaini M, et al. Among authors: buniello a. Nucleic Acids Res. 2021 Jan 8;49(D1):D1311-D1320. doi: 10.1093/nar/gkaa840. Nucleic Acids Res. 2021. PMID: 33045747 Free PMC article.
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.
Morales J, Welter D, Bowler EH, Cerezo M, Harris LW, McMahon AC, Hall P, Junkins HA, Milano A, Hastings E, Malangone C, Buniello A, Burdett T, Flicek P, Parkinson H, Cunningham F, Hindorff LA, MacArthur JAL. Morales J, et al. Among authors: buniello a. Genome Biol. 2018 Feb 15;19(1):21. doi: 10.1186/s13059-018-1396-2. Genome Biol. 2018. PMID: 29448949 Free PMC article.
19 results