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Very low-depth whole-genome sequencing in complex trait association studies.
Gilly A, Southam L, Suveges D, Kuchenbaecker K, Moore R, Melloni GEM, Hatzikotoulas K, Farmaki AE, Ritchie G, Schwartzentruber J, Danecek P, Kilian B, Pollard MO, Ge X, Tsafantakis E, Dedoussis G, Zeggini E. Gilly A, et al. Among authors: schwartzentruber j. Bioinformatics. 2019 Aug 1;35(15):2555-2561. doi: 10.1093/bioinformatics/bty1032. Bioinformatics. 2019. PMID: 30576415 Free PMC article.
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR, Xifara DK, Matchan A, Hatzikotoulas K, Rayner NW, Chen Y, Pollin TI, O'Connell JR, Yerges-Armstrong LM, Kiagiadaki C, Panoutsopoulou K, Schwartzentruber J, Moutsianas L; UK10K consortium; Tsafantakis E, Tyler-Smith C, McVean G, Xue Y, Zeggini E. Tachmazidou I, et al. Among authors: schwartzentruber j. Nat Commun. 2013;4:2872. doi: 10.1038/ncomms3872. Nat Commun. 2013. PMID: 24343240 Free PMC article.
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.
Southam L, Gilly A, Süveges D, Farmaki AE, Schwartzentruber J, Tachmazidou I, Matchan A, Rayner NW, Tsafantakis E, Karaleftheri M, Xue Y, Dedoussis G, Zeggini E. Southam L, et al. Among authors: schwartzentruber j. Nat Commun. 2017 May 26;8:15606. doi: 10.1038/ncomms15606. Nat Commun. 2017. PMID: 28548082 Free PMC article.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium; Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium; Barroso… See abstract for full author list ➔ Tachmazidou I, et al. Among authors: schwartzentruber j. Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552196 Free PMC article.
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.
Hatzikotoulas K, Roposch A; DDH Case Control Consortium; Shah KM, Clark MJ, Bratherton S, Limbani V, Steinberg J, Zengini E, Warsame K, Ratnayake M, Tselepi M, Schwartzentruber J, Loughlin J, Eastwood DM, Zeggini E, Wilkinson JM. Hatzikotoulas K, et al. Among authors: schwartzentruber j. Commun Biol. 2018 May 31;1:56. doi: 10.1038/s42003-018-0052-4. eCollection 2018. Commun Biol. 2018. PMID: 30273415 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: schwartzentruber j. Nucleic Acids Res. 2021 Jan 8;49(D1):D1311-D1320. doi: 10.1093/nar/gkaa840. Nucleic Acids Res. 2021. PMID: 33045747 Free PMC article.
Open Targets Platform: supporting systematic drug-target identification and prioritisation.
Ochoa D, Hercules A, Carmona M, Suveges D, Gonzalez-Uriarte A, Malangone C, Miranda A, Fumis L, Carvalho-Silva D, Spitzer M, Baker J, Ferrer J, Raies A, Razuvayevskaya O, Faulconbridge A, Petsalaki E, Mutowo P, Machlitt-Northen S, Peat G, McAuley E, Ong CK, Mountjoy E, Ghoussaini M, Pierleoni A, Papa E, Pignatelli M, Koscielny G, Karim M, Schwartzentruber J, Hulcoop DG, Dunham I, McDonagh EM. Ochoa D, et al. Among authors: schwartzentruber j. Nucleic Acids Res. 2021 Jan 8;49(D1):D1302-D1310. doi: 10.1093/nar/gkaa1027. Nucleic Acids Res. 2021. PMID: 33196847 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: schwartzentruber j. 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.
114 results