Short CV/Education and training

  • Since 2008
    Wellcome Trust Sanger Institute, Group Leader Human Genetics Faculty, Human complex disease genetics

  • 2006 – 2008
    WTCHG, University of Oxford, UK, Wellcome Trust Research Career Development Fellow, Analytical and empirical approaches in large-scale association studies

  • 2004 – 2006
    WTCHG, University of Oxford, UK, Post Doctoral Research Associate in Statistical Genetics, Genetic analysis for the International Type 2 Diabetes 1q Consortium

  • 2003 – 2004
    CIGMR, University of Manchester, UK

  • 2003
    PhD in Immunogenetics of Juvenile Arthritis from the arc Epidemiology Unit, University of Manchester

  • 1999
    BSc in Biochemistry from the University of Manchester Institute of Science and Technology (UMIST)

Selected publications

  • Xue Y, Mezzavilla M, Haber M, McCarthy S, Chen Y, Narasimhan V, Gilly A, Ayub Q, Colonna V, Southam L, Finan C, Massaia A, Chheda H, Palta P, Ritchie G, Asimit J, Dedoussis G, Gasparini P, Palotie A, Ripatti S, Soranzo N, Toniolo D, Wilson JF, Durbin R, Tyler-Smith C, Zeggini E. Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Nat Commun 2017;8:15927. PMID: 28643794.

  • 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. Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. Nat Commun 2017;8:15606. PMID: 28548082.

  • 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 I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E. Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits. Am J Hum Genet 2017;100:865-884. PMID: 28552196.

  • The UK10K Consortium. The UK10K project identifies rare variants in health and disease. Nature 2015;526:82-90. PMID: 26367797.

  • Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I, Hatzikotoulas K, Karthikeyan S, Iles L, Pollard MO, Choudhury A, Ritchie GRS, Xue Y, Asimit J, Nsubuga RN, Young EH, Pomilla C, Kivinen K, Rockett K, Kamali A, Doumatey AP, Asiki G, Seeley J, Sisay-Joof F, Jallow M, Tollman S, Mekonnen E, Ekong R, Oljira T, Bradman N, Bojang K, Ramsay M, Adeyemo A, Bekele E, Motala A, Norris SA, Pirie F, Kaleebu P, Kwiatkowski D, Tyler-Smith C, Rotimi C, Zeggini E*, Sandhu MS*. The African Genome Variation Project: A framework for medical genetics in Africa. Nature 2015;517:327-32. PMID: 25470054.

  • Panoutsopoulou K, Thiagarajah T, Zengini E, Day-Williams AG, Ramos YFM, Meessen JMTA, Huetink K, Nelissen RGHH, Southam L, Rayner NW, arcOGEN Consortium, Doherty D, Meulenbelt I, Zeggini E*, Wilkinson JM*. Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis. Ann Rheum Dis 2016;76:1199-1206. PMID: 27974301.

  • Ritchie GRS, Dunham I, Zeggini E*, Flicek P*. Functional annotation of non-coding variants. Nat Methods 2014;11:294-6. PMID: 24487584.

  • Tachmazidou I, Dedoussis G, Southam L, Farmaki A-E, Ritchie GRS, 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. A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Nat Commun 2013;4:2872. PMID: 24343240.

  • Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hofman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonsson H, Kerkhof HJM, Kloppenburg M, Bos S, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EVA, Ratnayake M, Ricketts M, Beazley C, Blackburn H, Bumpstead S, Elliott KS, Hunt SE, Potter SC, Shin SY, Yadav VK, Zhai G, Sherburn K, Dixon K, Arden E, Aslam N, Battley PK, Carluke I, Doherty S, Gordon A, Joseph J, Keen R, Koller NC, Mitchell S, O’Neill F, Paling E, Reed MR, Rivadeneira F, Swift D, Walker K, Watkins B, Wheeler M, Birrell F, Ioannidis JPA, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JBJ, arcOGEN Consortium, Chapman K, Deloukas P, Ollier WER, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Wilkinson JM, Ralston SH, Valdes AM, Spector TD, Loughlin J. Identification of new susceptibility loci for osteoarthritis -the arcOGEN study. Lancet 2012;380:815-23. PMID: 22763110.

  • Day-Williams AG, Southam L, Panoutsopoulou K, Rayner NW, Esko T, Estrada K, Helgadottir HT, Hofman A, Ingvarsson T, Jonsson H, Keis A, Kerkhof HJ, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Loughlin J, McCaskie A, Ollier WE, Ralston SH, Spector TD, Wallis GA, Wilkinson JM, Aslam N, Birell F, Carluke I, Joseph J, Rai A, Reed M, Walker K; arcOGEN Consortium, Doherty SA, Jonsdottir I, Maciewicz RA, Muir KR, Metspalu A, Rivadeneira F, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JB, Zhang W, Valdes AM, Doherty M, Zeggini E. A variant in MCF2L is associated with osteoarthritis. Am J Hum Genet 2011;89:446-50. PMID: 21871595.

  • Zeggini E. Next-generation association studies for complex traits. Nat Genet 2011;43(4):287-8. PMID: 21445070.

  • Zeggini E*, Scott LJ*, Saxena R*, Voight BF*, the DIAGRAM Consortium. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40:638-45. PMID: 18372903.

  • The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447(7145):661-78. PMID: 17554300.

  • Zeggini E*, Weedon MN*, Lindgren CM*, Frayling TM*, Elliott KS, Lango H, Timpson NJ, Perry JB, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JM, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney ASF, the Wellcome Trust Case Control Consortium, McCarthy MI, Hattersley AT. Replication of genome-wide association signals in U.K. samples reveals risk loci for type 2 diabetes. Science 2007;316(5829):1336-41. PMID: 17463249.

  • Frayling TM*, Timpson NJ*, Weedon MN*, Zeggini E*, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch A-M, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin M-R, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJF, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CNA, Doney ASF, Morris AD, Davey-Smith G, the Wellcome Trust Case Control Consortium, Hattersley AT, McCarthy MI. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007;316(5826):889-94. PMID: 17434869.

  • Zeggini E, Rayner W, Morris A, Hattersley A, Walker M, Hitman G, Deloukas P, Cardon L, McCarthy M. An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet 2005;37(12):1320-2. PMID: 16258542.


Membership in scientific bodies/juries

Editorial duties

  • PLoS Genetics (Associate Editor)

  • European Journal of Human Genetics (Section Editor)

  • European Journal of Clinical Investigation (Associate Editor 2008 – 2013)

  • Human Heredity (Associate Editor, 2010 – 2013)

  • BMC Medical Genetics (Editorial Advisor)

Advisory Boards

  • Understanding Society Health and Biomarker Advisory Committee

  • Anorexia Nervosa Genetics Initiative Scientific Advisory Council

  • WT-NIH Studentship Programme Advisory Committee

  • EMBL Bioethical Advisory Committee

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