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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.
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.
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.
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.
Workshop proceedings: GWAS summary statistics standards and sharing.
MacArthur JAL, Buniello A, Harris LW, Hayhurst J, McMahon A, Sollis E, Cerezo M, Hall P, Lewis E, Whetzel PL, Bahcall OG, Barroso I, Carroll RJ, Inouye M, Manolio TA, Rich SS, Hindorff LA, Wiley K, Parkinson H. MacArthur JAL, et al. Among authors: buniello a. Cell Genom. 2021 Oct 13;1(1):100004. doi: 10.1016/j.xgen.2021.100004. Cell Genom. 2021. PMID: 36082306 Free PMC article.
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.
Sollis E, Mosaku A, Abid A, Buniello A, Cerezo M, Gil L, Groza T, Güneş O, Hall P, Hayhurst J, Ibrahim A, Ji Y, John S, Lewis E, MacArthur JAL, McMahon A, Osumi-Sutherland D, Panoutsopoulou K, Pendlington Z, Ramachandran S, Stefancsik R, Stewart J, Whetzel P, Wilson R, Hindorff L, Cunningham F, Lambert SA, Inouye M, Parkinson H, Harris LW. Sollis E, et al. Among authors: buniello a. Nucleic Acids Res. 2023 Jan 6;51(D1):D977-D985. doi: 10.1093/nar/gkac1010. Nucleic Acids Res. 2023. PMID: 36350656 Free PMC article.
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt.
Ochoa D, Hercules A, Carmona M, Suveges D, Baker J, Malangone C, Lopez I, Miranda A, Cruz-Castillo C, Fumis L, Bernal-Llinares M, Tsukanov K, Cornu H, Tsirigos K, Razuvayevskaya O, Buniello A, Schwartzentruber J, Karim M, Ariano B, Martinez Osorio RE, Ferrer J, Ge X, Machlitt-Northen S, Gonzalez-Uriarte A, Saha S, Tirunagari S, Mehta C, Roldán-Romero JM, Horswell S, Young S, Ghoussaini M, Hulcoop DG, Dunham I, McDonagh EM. Ochoa D, et al. Among authors: buniello a. Nucleic Acids Res. 2023 Jan 6;51(D1):D1353-D1359. doi: 10.1093/nar/gkac1046. Nucleic Acids Res. 2023. PMID: 36399499 Free PMC article.
25 results