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Principal Investigators

Department of Haematology

School of Clinical Medicine

Professor Nicole Soranzo

Professor of Human Genetics

PI Photo

Email: ns545@cam.ac.uk

Home page: http://www.sanger.ac.uk/people/directory/soranzo-nicole

Description of research

Our research focuses on the application of large-scale genomic analysis to unravel the spectrum of human genetic variation associated with cardiometabolic diseases, and its interaction with non-genetic and environmental cues. Common, complex conditions such as cardiovascular, inflammatory and immune diseases can be considered as extremes of a broad spectrum of phenotypic variation that is also seen in healthy individuals. Our group is interested in understanding how genetic factors interact with other non-genetic and so-called epigenetic factors to determine such phenotypic variation. To achieve this, we use large-scale genome scans including genome sequencing data, epigenetic profiling and molecular traits such as gene expression and metabolomics. We strongly believe in the value of data sharing. We have generated rich genomic datasets for the scientific community, including an expansive atlas of genetic associations with metabolites, whole-genome sequence and phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information, including a metabolite network, a database of genotype-metabolite associations with our colleagues at the Helmholtz Centre, and a genome browser of UK10K association results.

 

Genetic and epigenetic determinants of haematopoiesis

We use genetic association scans based on SNP arrays and whole-genome sequencing to identify novel genes and gene variants affecting hematological indices in humans. We are part of the HaemGen consortium, a worldwide effort to discover genetic determinants of blood cell formation and to drive downstream interpretation of sequence variation through a host of integrative analyses and functional approaches. To date, this effort has identified >150 novel loci associated with white and red blood cell and platelet formation (eg, Nat Genet 2009;41:1191, Nature 2011;480:201, Nature 2012;492:369). Further work has validated novel regulators of haematopoiesis in humans and model organisms (Blood 2011;118:4967), and mapped functional consequences of sequence variants in cell systems (e.g. PLoS Genet 2011;7:e1002139).

 

BLUEPRINT  http://www.blueprint-epigenome.eu

As an extension to our genetics projects, we now aim to identify and characterize in greater depth genes implicated in hematopoietic development in the EU FP7-funded BLUEPRINT project, which will generate reference genomes and epigenomes of at least 100 specific blood cell types. Our group coordinates the EpiVar package of the BLUEPRINT project, which is generating genomic (through whole-genome sequencing) and epigenetic characterization of three main immune cell types in 200 individuals, with the aim to characterize the role of human variation on the epigenomic landscape.

 

NIHR BTRU in Donor Health and Genomics http://donorhealth-btru.nihr.ac.uk/index.html

We are part of the NIHR Blood and Transplant Research Unit in Donor Health and Genomics, where we coordinate a research theme on Determinants of donation-related biomarkers. This theme will address the NIHR BTRU mandate to identify and characterise “genetic, biochemical, lifestyle and other determinants of relevant blood cell traits, and measures of iron homeostasis, including determinants of the trajectories of these factors over time among donors”. The rationale is that such information is needed to understand molecular and health consequences of repeated donation. Through analysis of the INTERVAL Trial data, serial follow-up of donors and mechanistic studies, Theme 1 will help identify people who can give blood more (or less) frequently than is typical, feeding into Themes 2-3 by identifying “genomic and other factors associated with capacity to give blood”, informing “evidence-based strategies to prevent deferral”.

 

Research focus

Keywords: Cardiometabolic traits, metabolomic genetics, haematopoiesis

Clinical conditions: Coronary artery disease, myocardial infarction

Methodologies: Genetic association analyses, metabolomic phenotyping

Cambridge collaborators

Willem Ouwehand, Department of Haematology

Other collaborators

Christian Gieger, Helmholtz Zentrum München

Jonathan Marchini, University of Oxford

Karsten Suhre, Weill Cornell Medical College, Doha, Qatar

Manolis Dermitzakis, University of Geneva

Key Publications

  • Kang JB, Raveane A, Nathan A, Soranzo N, Raychaudhuri S. Methods and Insights from Single-Cell Expression Quantitative Trait Loci. Annu Rev Genomics Hum Genet. 2023 May 17. doi: 10.1146/annurev-genom-101422-100437
  • Xu Y, Ritchie SC, Liang Y, Timmers PRHJ, Pietzner M, Lannelongue L, Lambert SA, Tahir UA, May-Wilson S, Foguet C, Johansson Å, Surendran P, Nath AP, Persyn E, Peters JE, Oliver-Williams C, Deng S, Prins B, Luan J, Bomba L, Soranzo N, Di Angelantonio E, Pirastu N, Tai ES, van Dam RM, Parkinson H, Davenport EE, Paul DS, Yau C, Gerszten RE, Mälarstig A, Danesh J, Sim X, Langenberg C, Wilson JF, Butterworth AS, Inouye M. An atlas of genetic scores to predict multi-omic traits. Nature. 2023 Apr;616(7955):123-131. doi: 10.1038/s41586-023-05844-9.
  • Bomba L, Walter K, Guo Q, Surendran P, Kundu K, Nongmaithem S, Karim MA, Stewart ID, Langenberg C, Danesh J, Di Angelantonio E, Roberts DJ, Ouwehand WH; INTERVAL study, Dunham I, Butterworth AS, Soranzo N. Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites. Am J Hum Genet. 2022 Jun 2;109(6):1038-1054. doi: 10.1016/j.ajhg.2022.04.009.
  • Bossini-Castillo L, Glinos DA, Kunowska N, Golda G, Lamikanra AA, Spitzer M, Soskic B, Cano-Gamez E, Smyth DJ, Cattermole C, Alasoo K, Mann A, Kundu K, Lorenc A, Soranzo N, Dunham I, Roberts DJ, Trynka G. Immune disease variants modulate gene expression in regulatory CD4+ T cells. Cell Genom. 2022 Apr 13;2(4). doi: 10.1016/j.xgen.2022.100117.
  • Schmidt AW, Kühnapfel A, Kirsten H, Grallert H, Hellerbrand C, Kiefer F, Mann K, Mueller S, Nöthen MM, Peters A, Ridinger M, Frank J, Rietschel M, Soranzo N, Soyka M, Wodarz N, Malerba G, Gambaro G, Gieger C, Scholz M, Krug S, Michl P, Ewers M, Witt H, Laumen H, Rosendahl J. Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms. Pancreatology. 2022 Mar 11:S1424-3903(22)00096-5. doi: 10.1016/j.pan.2022.03.007.
  • Kundu K, Tardaguila M, Mann AL, Watt S, Ponstingl H, Vasquez L, Von Schiller D, Morrell NW, Stegle O, Pastinen T, Sawcer SJ, Anderson CA, Walter K, Soranzo N. Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases. Nat Genet. 2022 Mar;54(3):251-262. doi: 10.1038/s41588-022-01025-y.
  • Rowland B, Venkatesh S, Tardaguila M, Wen J, Rosen JD, Tapia AL, Sun Q, Graff M, Vuckovic D, Lettre G, Sankaran VG, Voloudakis G, Roussos P, Huffman JE, Reiner AP, Soranzo N, Raffield LM, Li Y. Transcriptome-wide association study in UK biobank Europeans identifies associations with blood cell traits.  Hum Mol Genet. 2022 Feb 9:ddac011. doi: 10.1093/hmg/ddac011.
  • Riveros-Mckay F, Roberts D, Di Angelantonio E, Yu B, Soranzo N, Danesh J, Selvin E, Butterworth AS, Barroso I. An Expanded Genome-Wide Association Study of Fructosamine Levels Identifies RCN3 as a Replicating Locus and Implicates FCGRT as the Effector Transcript. Diabetes. 2022 Feb 1;71(2):359-364. doi: 10.2337/db21-0320.
  • Xu Y, Vuckovic D, Ritchie SC, Akbari P, Jiang T, Grealey J, Butterworth AS, Ouwehand WH, Roberts DJ, Di Angelantonio E, Danesh J, Soranzo N, Inouye M. Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease. Cell Genom. 2022 Jan 12;2(1). doi: 10.1016/j.xgen.2021.100086.
  • Goudswaard LJ, Bell JA, Hughes DA, Corbin LJ, Walter K, Davey Smith G, Soranzo N, Danesh J, Di Angelantonio E, Ouwehand WH, Watkins NA, Roberts DJ, Butterworth AS, Hers I, Timpson NJ. Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates. Int J Obes (Lond). 2021 Jul 5. doi: 10.1038/s41366-021-00896-1.
  • Puan KJ, San Luis B, Yusof N, Kumar D, Andiappan AK, Lee W, Cajic S, Vuckovic D, Chan J, Döllner T, Hou HW, Jiang Y, Tian C; 23andMe Research Team, Rapp E, Poidinger M, Wang Y, Soranzo N, Lee B, Rötzschke O. FUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression. Commun Biol. 2021 Jul 2;4(1):832. doi: 10.1038/s42003-021-02295-8.
  • Hu Y, Stilp AM, McHugh CP, Rao S, Jain D, Zheng X, Lane J, Méric de Bellefon S, Raffield LM, Chen MH, Yanek LR, Wheeler M, Yao Y, Ren C, Broome J, Moon JY, de Vries PS, Hobbs BD, Sun Q, Surendran P, Brody JA, Blackwell TW, Choquet H, Ryan K, Duggirala R, Heard-Costa N, Wang Z, Chami N, Preuss MH, Min N, Ekunwe L, Lange LA, Cushman M, Faraday N, Curran JE, Almasy L, Kundu K, Smith AV, Gabriel S, Rotter JI, Fornage M, Lloyd-Jones DM, Vasan RS, Smith NL, North KE, Boerwinkle E, Becker LC, Lewis JP, Abecasis GR, Hou L, O’Connell JR, Morrison AC, Beaty TH, Kaplan R, Correa A, Blangero J, Jorgenson E, Psaty BM, Kooperberg C, Walton RT, Kleinstiver BP, Tang H, Loos RJF, Soranzo N, Butterworth AS, Nickerson D, Rich SS, Mitchell BD, Johnson AD, Auer PL, Li Y, Mathias RA, Lettre G, Pankratz N, Laurie CC, Laurie CA, Bauer DE, Conomos MP, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 Jun 3;108(6):1165. doi: 10.1016/j.ajhg.2021.04.015.
  • Young AMH, Kumasaka N, Calvert F, Hammond TR, Knights A, Panousis N, Park JS, Schwartzentruber J, Liu J, Kundu K, Segel M, Murphy NA, McMurran CE, Bulstrode H, Correia J, Budohoski KP, Joannides A, Guilfoyle MR, Trivedi R, Kirollos R, Morris R, Garnett MR, Timofeev I, Jalloh I, Holland K, Mannion R, Mair R, Watts C, Price SJ, Kirkpatrick PJ, Santarius T, Mountjoy E, Ghoussaini M, Soranzo N, Bayraktar OA, Stevens B, Hutchinson PJ, Franklin RJM, Gaffney DJ. A map of transcriptional heterogeneity and regulatory variation in human microglia. Nat Genet. 2021 Jun;53(6):861-868. doi: 10.1038/s41588-021-00875-2.
  • Bell S, Rigas AS, Magnusson MK, Ferkingstad E, Allara E, Bjornsdottir G, Ramond A, Sørensen E, Halldorsson GH, Paul DS, Burgdorf KS, Eggertsson HP, Howson JMM, Thørner LW, Kristmundsdottir S, Astle WJ, Erikstrup C, Sigurdsson JK, Vuckovic D, Dinh KM, Tragante V, Surendran P, Pedersen OB, Vidarsson B, Jiang T, Paarup HM, Onundarson PT, Akbari P, Nielsen KR, Lund SH, Juliusson K, Magnusson MI, Frigge ML, Oddsson A, Olafsson I, Kaptoge S, Hjalgrim H, Runarsson G, Wood AM, Jonsdottir I, Hansen TF, Sigurdardottir O, Stefansson H, Rye D; DBDS Genomic Consortium, Peters JE, Westergaard D, Holm H, Soranzo N, Banasik K, Thorleifsson G, Ouwehand WH, Thorsteinsdottir U, Roberts DJ, Sulem P, Butterworth AS, Gudbjartsson DF, Danesh J, Brunak S, Di Angelantonio E, Ullum H, Stefansson K. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis. Commun Biol. 2021 Feb 3;4(1):156. doi: 10.1038/s42003-020-01575-z.
  • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, Faggian A, Bonnefond A, Fadista J, Stathopoulou MG, Isaacs A, Willems SM, Navarro P, Tanaka T, Jackson AU, Montasser ME, O’Connell JR, Bielak LF, Webster RJ, Saxena R, Stafford JM, Pourcain BS, Timpson NJ, Salo P, Shin SY, Amin N, Smith AV, Li G, Verweij N, Goel A, Ford I, Johnson PCD, Johnson T, Kapur K, Thorleifsson G, Strawbridge RJ, Rasmussen-Torvik LJ, Esko T, Mihailov E, Fall T, Fraser RM, Mahajan A, Kanoni S, Giedraitis V, Kleber ME, Silbernagel G, Meyer J, Müller-Nurasyid M, Ganna A, Sarin AP, Yengo L, Shungin D, Luan J, Horikoshi M, An P, Sanna S, Boettcher Y, Rayner NW, Nolte IM, Zemunik T, Iperen EV, Kovacs P, Hastie ND, Wild SH, McLachlan S, Campbell S, Polasek O, Carlson O, Egan J, Kiess W, Willemsen G, Kuusisto J, Laakso M, Dimitriou M, Hicks AA, Rauramaa R, Bandinelli S, Thorand B, Liu Y, Miljkovic I, Lind L, Doney A, Perola M, Hingorani A, Kivimaki M, Kumari M, Bennett AJ, Groves CJ, Herder C, Koistinen HA, Kinnunen L, Faire U, Bakker SJL, Uusitupa M, Palmer CNA, Jukema JW, Sattar N, Pouta A, Snieder H, Boerwinkle E, Pankow JS, Magnusson PK, Krus U, Scapoli C, de Geus EJCN, Blüher M, Wolffenbuttel BHR, Province MA, Abecasis GR, Meigs JB, Hovingh GK, Lindström J, Wilson JF, Wright AF, Dedoussis GV, Bornstein SR, Schwarz PEH, Tönjes A, Winkelmann BR, Boehm BO, März W, Metspalu A, Price JF, Deloukas P, Körner A, Lakka TA, Keinanen-Kiukaanniemi SM, Saaristo TE, Bergman RN, Tuomilehto J, Wareham NJ, Langenberg C, Männistö S, Franks PW, Hayward C, Vitart V, Kaprio J, Visvikis-Siest S, Balkau B, Altshuler D, Rudan I, Stumvoll M, Campbell H, van Duijn CM, Gieger C, Illig T, Ferrucci L, Pedersen NL, Pramstaller PP, Boehnke M, Frayling TM, Shuldiner AR, Peyser PA, Kardia SLR, Palmer LJ, Penninx BW, Meneton P, Harris TB, Navis G, Harst PV, Smith GD, Forouhi NG, Loos RJF, Salomaa V, Soranzo N, Boomsma DI, Groop L, Tuomi T, Hofman A, Munroe PB, Gudnason V, Siscovick DS, Watkins H, Lecoeur C, Vollenweider P, Franco-Cereceda A, Eriksson P, Jarvelin MR, Stefansson K, Hamsten A, Nicholson G, Karpe F, Dermitzakis ET, Lindgren CM, McCarthy MI, Froguel P, Kaakinen MA, Lyssenko V, Watanabe RM, Ingelsson E, Florez JC, Dupuis J, Barroso I, Morris AP, Prokopenko I; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC). Nat Commun. 2021 Jan 5;12(1):24. doi: 10.1038/s41467-020-19366-9.
  • Large genome-wide association study identifies three novel risk variants for restless legs syndrome. Didriksen M, Nawaz MS, Dowsett J, Bell S, Erikstrup C, Pedersen OB, Sørensen E, Jennum PJ, Burgdorf KS, Burchell B, Butterworth AS, Soranzo N, Rye DB, Trotti LM, Saini P, Stefansdottir L, Magnusson SH, Thorleifsson G, Sigmundsson T, Sigurdsson AP, Van Den Hurk K, Quee F, Tanck MWT, Ouwehand WH, Roberts DJ, Earley EJ, Busch MP, Mast AE, Page GP, Danesh J, Di Angelantonio E, Stefansson H, Ullum H, Stefansson K. Commun Biol. 2020 Nov 25;3(1):703. doi: 10.1038/s42003-020-01430-1.
  • Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN, Giri A, Tragante V, Thorleifsson G, Liu DJ, Prins BP, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, Daw EW, Warren HR, Drenos F, Nielsen SF, Faul JD, Fauman EB, Fava C, Ferreira T, Foley CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo X, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang SJ, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindström J, Lotta LA, Lu Y, Luan J, Mahajan A, Malerba G, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Müller-Nurasyid M, Paré G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepúlveda N, Sim X, Smith AV, Smith JA, Staley JR, Stanáková A, Sulem P, Thériault S, Thorsteinsdottir U, Trompet S, Varga TV, Velez Edwards DR, Veronesi G, Weiss S, Willems SM, Yao J, Young R, Yu B, Zhang W, Zhao JH, Zhao W, Zhao W, Evangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, Mutsert R, Dominiczak AF, Dörr M, Eiriksdottir G, Farmaki AE, Gaziano JM, Grarup N, Grove ML, Hallmans G, Hansen T, Have CT, Heiss G, Jørgensen ME, Jousilahti P, Kajantie E, Kamat M, Käräjämäki A, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen T, Lannfelt L, Lee IT, Lee WJ; LifeLines Cohort Study, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville MJ, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, Rayner NW, Mägi R, Renström F, Rettig R, Rossouw J, Schreiner PJ, Sever PS, Sigurdsson EL, Skaaby T, Sun YV, Sundstrom J, Thorgeirsson G, Esko T, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud AC, Willer CJ, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buring JE, Chambers JC, Chen YI, Chowdhury R, Conen D, Correa A, Davey Smith G, Boer RA, Deary IJ, Dedoussis G, Deloukas P, Di Angelantonio E, Elliott P; EPIC-CVD; EPIC-InterAct, Felix SB, Ferrières J, Ford I, Fornage M, Franks PW, Franks S, Frossard P, Gambaro G, Gaunt TR, Groop L, Gudnason V, Harris TB, Hayward C, Hennig BJ, Herzig KH, Ingelsson E, Tuomilehto J, Järvelin MR, Jukema JW, Kardia SLR, Kee F, Kooner JS, Kooperberg C, Launer LJ, Lind L, Loos RJF, Majumder AAS, Laakso M, McCarthy MI, Melander O, Mohlke KL, Murray AD, Nordestgaard BG, Orho-Melander M, Packard CJ, Padmanabhan S, Palmas W, Polasek O, Porteous DJ, Prentice AM, Province MA, Relton CL, Rice K, Ridker PM, Rolandsson O, Rosendaal FR, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sattar N, Sheu WH, Smith BH, Soranzo N, Spector TD, Starr JM, Sebert S, Taylor KD, Lakka TA, Timpson NJ, Tobin MD; Understanding Society Scientific Group, van der Harst P, van der Meer P, Ramachandran VS, Verweij N, Virtamo J, Völker U, Weir DR, Zeggini E, Charchar FJ; Million Veteran Program, Wareham NJ, Langenberg C, Tomaszewski M, Butterworth AS, Caulfield MJ, Danesh J, Edwards TL, Holm H, Hung AM, Lindgren CM, Liu C, Manning AK, Morris AP, Morrison AC, O’Donnell CJ, Psaty BM, Saleheen D, Stefansson K, Boerwinkle E, Chasman DI, Levy D, Newton-Cheh C, Munroe PB, Howson JMM. Nat Genet. 2020 Dec;52(12):1314-1332. doi: 10.1038/s41588-020-00713-x.
  • Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells. Chen L, Yang R, Kwan T, Tang C, Watt S, Zhang Y, Bourque G, Ge B, Downes K, Frontini M, Ouwehand WH, Lin JW, Soranzo N, Pastinen T, Chen L. Sci Data. 2020 Nov 9;7(1):376. doi: 10.1038/s41597-020-00719-4.
  • A single-cell RNA-sequencing training and analysis suite using the Galaxy framework. Tekman M, Batut B, Ostrovsky A, Antoniewski C, Clements D, Ramirez F, Etherington GJ, Hotz HR, Scholtalbers J, Manning JR, Bellenger L, Doyle MA, Heydarian M, Huang N, Soranzo N, Moreno P, Mautner S, Papatheodorou I, Nekrutenko A, Taylor J, Blankenberg D, Backofen R, Grüning B. Gigascience. 2020 Oct 20;9(10):giaa102. doi: 10.1093/gigascience/giaa102.
  • Genome-wide association study identifies 48 common genetic variants associated with handedness. Cuellar-Partida G, Tung JY, Eriksson N, Albrecht E, Aliev F, Andreassen OA, Barroso I, Beckmann JS, Boks MP, Boomsma DI, Boyd HA, Breteler MMB, Campbell H, Chasman DI, Cherkas LF, Davies G, de Geus EJC, Deary IJ, Deloukas P, Dick DM, Duffy DL, Eriksson JG, Esko T, Feenstra B, Geller F, Gieger C, Giegling I, Gordon SD, Han J, Hansen TF, Hartmann AM, Hayward C, Heikkilä K, Hicks AA, Hirschhorn JN, Hottenga JJ, Huffman JE, Hwang LD, Ikram MA, Kaprio J, Kemp JP, Khaw KT, Klopp N, Konte B, Kutalik Z, Lahti J, Li X, Loos RJF, Luciano M, Magnusson SH, Mangino M, Marques-Vidal P, Martin NG, McArdle WL, McCarthy MI, Medina-Gomez C, Melbye M, Melville SA, Metspalu A, Milani L, Mooser V, Nelis M, Nyholt DR, O’Connell KS, Ophoff RA, Palmer C, Palotie A, Palviainen T, Pare G, Paternoster L, Peltonen L, Penninx BWJH, Polasek O, Pramstaller PP, Prokopenko I, Raikkonen K, Ripatti S, Rivadeneira F, Rudan I, Rujescu D, Smit JH, Smith GD, Smoller JW, Soranzo N, Spector TD, Pourcain BS, Starr JM, Stefánsson H, Steinberg S, Teder-Laving M, Thorleifsson G, Stefánsson K, Timpson NJ, Uitterlinden AG, van Duijn CM, van Rooij FJA, Vink JM, Vollenweider P, Vuoksimaa E, Waeber G, Wareham NJ, Warrington N, Waterworth D, Werge T, Wichmann HE, Widen E, Willemsen G, Wright AF, Wright MJ, Xu M, Zhao JH, Kraft P, Hinds DA, Lindgren CM, Mägi R, Neale BM, Evans DM, Medland SE. Nat Hum Behav. 2020 Sep 28. doi: 10.1038/s41562-020-00956-y.
  • The Polygenic and Monogenic Basis of Blood Traits and Diseases. Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S; VA Million Veteran Program, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N. Cell. 2020 Sep 3;182(5):1214-1231.e11. doi: 10.1016/j.cell.2020.08.008.
  • Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB; VA Million Veteran Program, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G. Cell. 2020 Sep 3;182(5):1198-1213.e14. doi: 10.1016/j.cell.2020.06.045.
  • Personalized and graph genomes reveal missing signal in epigenomic data. Groza C, Kwan T, Soranzo N, Pastinen T, Bourque G. Genome Biol. 2020 May 25;21(1):124. doi: 10.1186/s13059-020-02038-8.
  • No Evidence of Persistence or Inheritance of Mitochondrial DNA Copy Number in Holocaust Survivors and Their Descendants. Cai N, Fňašková M, Konečná K, Fojtová M, Fajkus J, Coomber E, Watt S, Soranzo N, Preiss M, Rektor I. Front Genet. 2020 Mar 3;11:87. doi: 10.3389/fgene.2020.00087.
  • The influence of rare variants in circulating metabolic biomarkers. Riveros-Mckay F, Oliver-Williams C, Karthikeyan S, Walter K, Kundu K, Ouwehand WH, Roberts D, Di Angelantonio E, Soranzo N, Danesh J; INTERVAL Study, Wheeler E, Zeggini E, Butterworth AS, Barroso I. PLoS Genet. 2020 Mar 9;16(3):e1008605. doi: 10.1371/journal.pgen.1008605.
  • A brief history of human disease genetics. Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7.
  • A Galaxy-based training resource for single-cell RNA-sequencing quality control and analyses. Etherington GJ, Soranzo N, Mohammed S, Haerty W, Davey RP, Palma FD. Gigascience. 2019 Dec 1;8(12):giz144. doi: 10.1093/gigascience/giz144.
  • A bird’s-eye view of Italian genomic variation through whole-genome sequencing. Cocca M, Barbieri C, Concas MP, Robino A, Brumat M, Gandin I, Trudu M, Sala CF, Vuckovic D, Girotto G, Matullo G, Polasek O, Kolčić I, Gasparini P, Soranzo N, Toniolo D, Mezzavilla M. Eur J Hum Genet. 2020 Apr;28(4):435-444. doi: 10.1038/s41431-019-0551-x.
  • Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status. Lyons PA, Peters JE, Alberici F, Liley J, Coulson RMR, Astle W, Baldini C, Bonatti F, Cid MC, Elding H, Emmi G, Epplen J, Guillevin L, Jayne DRW, Jiang T, Gunnarsson I, Lamprecht P, Leslie S, Little MA, Martorana D, Moosig F, Neumann T, Ohlsson S, Quickert S, Ramirez GA, Rewerska B, Schett G, Sinico RA, Szczeklik W, Tesar V, Vukcevic D; European Vasculitis Genetics Consortium, Terrier B, Watts RA, Vaglio A, Holle JU, Wallace C, Smith KGC. Nat Commun. 2019 Nov 12;10(1):5120. doi: 10.1038/s41467-019-12515-9.
  • Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. Gurdasani D, Carstensen T, Fatumo S, Chen G, Franklin CS, Prado-Martinez J, Bouman H, Abascal F, Haber M, Tachmazidou I, Mathieson I, Ekoru K, DeGorter MK, Nsubuga RN, Finan C, Wheeler E, Chen L, Cooper DN, Schiffels S, Chen Y, Ritchie GRS, Pollard MO, Fortune MD, Mentzer AJ, Garrison E, Bergström A, Hatzikotoulas K, Adeyemo A, Doumatey A, Elding H, Wain LV, Ehret G, Auer PL, Kooperberg CL, Reiner AP, Franceschini N, Maher D, Montgomery SB, Kadie C, Widmer C, Xue Y, Seeley J, Asiki G, Kamali A, Young EH, Pomilla C, Soranzo N, Zeggini E, Pirie F, Morris AP, Heckerman D, Tyler-Smith C, Motala AA, Rotimi C, Kaleebu P, Barroso I, Sandhu MS. Cell. 2019 Oct 31;179(4):984-1002.e36. doi: 10.1016/j.cell.2019.10.004.
  • Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.
  • Yao S, Kuja-Halkola R, Martin J, Lu Y, Lichtenstein P, Norring C, Birgegård A, Yilmaz Z, Hübel C, Watson H, Baker J, Almqvist C; Eating Disorders Working Group of the Psychiatric Genomics Consortium, Thornton LM, Magnusson PK, Bulik CM, Larsson H. Biol Psychiatry. 2019 Oct 15;86(8):577-586. doi: 10.1016/j.biopsych.2019.04.036. Epub 2019 May 15.
  • A catalog of genetic loci associated with kidney function from analyses of a million individuals. Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, Tin A, Wang L, Chu AY, Hoppmann A, Kirsten H, Giri A, Chai JF, Sveinbjornsson G, Tayo BO, Nutile T, Fuchsberger C, Marten J, Cocca M, Ghasemi S, Xu Y, Horn K, Noce D, van der Most PJ, Sedaghat S, Yu Z, Akiyama M, Afaq S, Ahluwalia TS, Almgren P, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boehnke M, Boerwinkle E, Boissel M, Bottinger EP, Boutin TS, Brenner H, Brumat M, Burkhardt R, Butterworth AS, Campana E, Campbell A, Campbell H, Canouil M, Carroll RJ, Catamo E, Chambers JC, Chee ML, Chee ML, Chen X, Cheng CY, Cheng Y, Christensen K, Cifkova R, Ciullo M, Concas MP, Cook JP, Coresh J, Corre T, Sala CF, Cusi D, Danesh J, Daw EW, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Delgado G, Demirkan A, Di Angelantonio E, Dittrich K, Divers J, Dorajoo R, Eckardt KU, Ehret G, Elliott P, Endlich K, Evans MK, Felix JF, Foo VHX, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Friedlander Y, Froguel P, Gansevoort RT, Gao H, Gasparini P, Gaziano JM, Giedraitis V, Gieger C, Girotto G, Giulianini F, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, Haller T, Hamet P, Harris TB, Hartman CA, Hayward C, Hellwege JN, Heng CK, Hicks AA, Hofer E, Huang W, Hutri-Kähönen N, Hwang SJ, Ikram MA, Indridason OS, Ingelsson E, Ising M, Jaddoe VWV, Jakobsdottir J, Jonas JB, Joshi PK, Josyula NS, Jung B, Kähönen M, Kamatani Y, Kammerer CM, Kanai M, Kastarinen M, Kerr SM, Khor CC, Kiess W, Kleber ME, Koenig W, Kooner JS, Körner A, Kovacs P, Kraja AT, Krajcoviechova A, Kramer H, Krämer BK, Kronenberg F, Kubo M, Kühnel B, Kuokkanen M, Kuusisto J, La Bianca M, Laakso M, Lange LA, Langefeld CD, Lee JJ, Lehne B, Lehtimäki T, Lieb W; Lifelines Cohort Study, Lim SC, Lind L, Lindgren CM, Liu J, Liu J, Loeffler M, Loos RJF, Lucae S, Lukas MA, Lyytikäinen LP, Mägi R, Magnusson PKE, Mahajan A, Martin NG, Martins J, März W, Mascalzoni D, Matsuda K, Meisinger C, Meitinger T, Melander O, Metspalu A, Mikaelsdottir EK, Milaneschi Y, Miliku K, Mishra PP; V. A. Million Veteran Program, Mohlke KL, Mononen N, Montgomery GW, Mook-Kanamori DO, Mychaleckyj JC, Nadkarni GN, Nalls MA, Nauck M, Nikus K, Ning B, Nolte IM, Noordam R, O’Connell J, O’Donoghue ML, Olafsson I, Oldehinkel AJ, Orho-Melander M, Ouwehand WH, Padmanabhan S, Palmer ND, Palsson R, Penninx BWJH, Perls T, Perola M, Pirastu M, Pirastu N, Pistis G, Podgornaia AI, Polasek O, Ponte B, Porteous DJ, Poulain T, Pramstaller PP, Preuss MH, Prins BP, Province MA, Rabelink TJ, Raffield LM, Raitakari OT, Reilly DF, Rettig R, Rheinberger M, Rice KM, Ridker PM, Rivadeneira F, Rizzi F, Roberts DJ, Robino A, Rossing P, Rudan I, Rueedi R, Ruggiero D, Ryan KA, Saba Y, Sabanayagam C, Salomaa V, Salvi E, Saum KU, Schmidt H, Schmidt R, Schöttker B, Schulz CA, Schupf N, Shaffer CM, Shi Y, Smith AV, Smith BH, Soranzo N, Spracklen CN, Strauch K, Stringham HM, Stumvoll M, Svensson PO, Szymczak S, Tai ES, Tajuddin SM, Tan NYQ, Taylor KD, Teren A, Tham YC, Thiery J, Thio CHL, Thomsen H, Thorleifsson G, Toniolo D, Tönjes A, Tremblay J, Tzoulaki I, Uitterlinden AG, Vaccargiu S, van Dam RM, van der Harst P, van Duijn CM, Velez Edward DR, Verweij N, Vogelezang S, Völker U, Vollenweider P, Waeber G, Waldenberger M, Wallentin L, Wang YX, Wang C, Waterworth DM, Bin Wei W, White H, Whitfield JB, Wild SH, Wilson JF, Wojczynski MK, Wong C, Wong TY, Xu L, Yang Q, Yasuda M, Yerges-Armstrong LM, Zhang W, Zonderman AB, Rotter JI, Bochud M, Psaty BM, Vitart V, Wilson JG, Dehghan A, Parsa A, Chasman DI, Ho K, Morris AP, Devuyst O, Akilesh S, Pendergrass SA, Sim X, Böger CA, Okada Y, Edwards TL, Snieder H, Stefansson K, Hung AM, Heid IM, Scholz M, Teumer A, Köttgen A, Pattaro C. Nat Genet. 2019 Jun;51(6):957-972. doi: 10.1038/s41588-019-0407-x. Epub 2019 May 31.
  • Resolving variant-to-function relationships in hematopoiesis.
  • Tardaguila M, Soranzo N. Nat Genet. 2019 Apr;51(4):581-583. doi: 10.1038/s41588-019-0386-y.
  • The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population. Stapleton CP, Heinzel A, Guan W, van der Most PJ, van Setten J, Lord GM, Keating BJ, Israni AK, de Borst MH, Bakker SJL, Snieder H, Weale ME, Delaney F, Hernandez-Fuentes MP, Reindl-Schwaighofer R, Oberbauer R, Jacobson PA, Mark PB, Chapman FA, Phelan PJ, Kennedy C, Sexton D, Murray S, Jardine A, Traynor JP, McKnight AJ, Maxwell AP, Smyth LJ, Oetting WS, Matas AJ, Mannon RB, Schladt DP, Iklé DN, Cavalleri GL, Conlon PJ; UK Ireland Renal Transplant Consortium; DeKAF Genomics and GEN03 Studies; International Genetics and Translational Research in Transplantation Network. Am J Transplant. 2019 Aug;19(8):2262-2273. doi: 10.1111/ajt.15326.
  • Disentangling the genetics of lean mass. Karasik D, Zillikens MC, Hsu YH, Aghdassi A, Akesson K, Amin N, Barroso I, Bennett DA, Bertram L, Bochud M, Borecki IB, Broer L, Buchman AS, Byberg L, Campbell H, Campos-Obando N, Cauley JA, Cawthon PM, Chambers JC, Chen Z, Cho NH, Choi HJ, Chou WC, Cummings SR, de Groot LCPGM, De Jager PL, Demuth I, Diatchenko L, Econs MJ, Eiriksdottir G, Enneman AW, Eriksson J, Eriksson JG, Estrada K, Evans DS, Feitosa MF, Fu M, Gieger C, Grallert H, Gudnason V, Lenore LJ, Hayward C, Hofman A, Homuth G, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Johnson T, Biffar R, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koller DL, Kooner JS, Kraus WE, Kritchevsky S, Kutalik Z, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Lerch MM, Lewis JR, Lill C, Lind L, Lindgren C, Liu Y, Livshits G, Ljunggren Ö, Loos RJF, Lorentzon M, Luan J, Luben RN, Malkin I, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Nethander M, Newman AB, O’Connell JR, Oostra BA, Orwoll ES, Palotie A, Peacock M, Perola M, Peters A, Prince RL, Psaty BM, Räikkönen K, Ralston SH, Ripatti S, Rivadeneira F, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schipf S, Shin CS, Smith AV, Smith SB, Soranzo N, Spector TD, Stancáková A, Stefansson K, Steinhagen-Thiessen E, Stolk L, Streeten EA, Styrkarsdottir U, Swart KMA, Thompson P, Thomson CA, Thorleifsson G, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Uitterlinden AG, van Duijn CM, van Schoor NM, Vandenput L, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, J Wareham N, Waterworth D, Weedon MN, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Yerges-Armstrong LM, Yu L, Zhang W, Zhao JH, Zhou Y, Nielson CM, Harris TB, Demissie S, Kiel DP, Ohlsson C. Am J Clin Nutr. 2019 Feb 1;109(2):276-287. doi: 10.1093/ajcn/nqy272.
  • GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals. Iotchkova V, Ritchie GRS, Geihs M, Morganella S, Min JL, Walter K, Timpson NJ; UK10K Consortium, Dunham I, Birney E, Soranzo N. Nat Genet. 2019 Feb;51(2):343-353. doi: 10.1038/s41588-018-0322-6. Epub 2019 Jan 28.
  • Aequatus: an open-source homology browser. Thanki AS, Soranzo N, Herrero J, Haerty W, Davey RP. Gigascience. 2018 Nov 1;7(11):giy128. doi: 10.1093/gigascience/giy128.
  • Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. Ligthart S, Vaez A, Võsa U, … Soranzo N, … Franke L, Franco OH, Benjamin EJ, Chasman DI, Dupuis J, Snieder H, Dehghan A, Alizadeh BZ. Am J Hum Genet. 2018 Nov 1;103(5):691-706. doi: 10.1016/j.ajhg.2018.09.009.
  • Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Teumer A, Chaker L, Groeneweg S, …. Soranzo N, Sørensen TIA, Spector TD, Starr JM, Stott DJ, Taes Y, Taliun D, Tanaka T, Thuesen B, Tiller D, Toniolo D, Uitterlinden AG, Visser WE, Walsh JP, Wilson SG, Wolffenbuttel BHR, Yang Q, Zheng HF, Cappola A, Peeters RP, Naitza S, Völzke H, Sanna S, Köttgen A, Visser TJ, Medici M. Nat Commun. 2018 Oct 26;9(1):4455. doi: 10.1038/s41467-018-06356-1.
  • Community-Driven Data Analysis Training for Biology. Batut B, Hiltemann S, Bagnacani A, Baker D, Bhardwaj V, Blank C, Bretaudeau A, Brillet-Guéguen L, Čech M, Chilton J, Clements D, Doppelt-Azeroual O, Erxleben A, Freeberg MA, Gladman S, Hoogstrate Y, Hotz HR, Houwaart T, Jagtap P, Larivière D, Le Corguillé G, Manke T, Mareuil F, Ramírez F, Ryan D, Sigloch FC, Soranzo N, Wolff J, Videm P, Wolfien M, Wubuli A, Yusuf D; Galaxy Training Network, Taylor J, Backofen R, Nekrutenko A, Grüning B. Cell Syst. 2018 Jun 27;6(6):752-758.e1. doi: 10.1016/j.cels.2018.05.012.
  • Practical Computational Reproducibility in the Life Sciences. Grüning B, Chilton J, Köster J, Dale R, Soranzo N, van den Beek M, Goecks J, Backofen R, Nekrutenko A, Taylor J.
  • Cell Syst. 2018 Jun 27;6(6):631-635. doi: 10.1016/j.cels.2018.03.014.
  • Genomic atlas of the human plasma proteome. Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR, Blackshaw J, Burgess S, Jiang T, Paige E, Surendran P, Oliver-Williams C, Kamat MA, Prins BP, Wilcox SK, Zimmerman ES, Chi A, Bansal N, Spain SL, Wood AM, Morrell NW, Bradley JR, Janjic N, Roberts DJ, Ouwehand WH, Todd JA, Soranzo N, Suhre K, Paul DS, Fox CS, Plenge RM, Danesh J, Runz H, Butterworth AS. Nature. 2018 Jun;558(7708):73-79. doi: 10.1038/s41586-018-0175-2.
  • The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update. Afgan E, Baker D, Batut B, van den Beek M, Bouvier D, Cech M, Chilton J, Clements D, Coraor N, Grüning BA, Guerler A, Hillman-Jackson J, Hiltemann S, Jalili V, Rasche H, Soranzo N, Goecks J, Taylor J, Nekrutenko A, Blankenberg D. Nucleic Acids Res. 2018 Jul 2;46(W1):W537-W544. doi: 10.1093/nar/gky379.
  • Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. Lane WJ, Westhoff CM, Gleadall NS, Aguad M, Smeland-Wagman R, Vege S, Simmons DP, Mah HH, Lebo MS, Walter K, Soranzo N, Di Angelantonio E, Danesh J, Roberts DJ, Watkins NA, Ouwehand WH, Butterworth AS, Kaufman RM, Rehm HL, Silberstein LE, Green RC; MedSeq Project. Lancet Haematol. 2018 Jun;5(6):e241-e251. doi: 10.1016/S2352-3026(18)30053-X.
  • Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW.
  • Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.
  • Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Mahajan A, Wessel J, Willems SM, Zhao W, … Soranzo N, … Scott RA, Barroso I, Frayling TM, Goodarzi MO, Meigs JB, Boehnke M, Saleheen D, Morris AP, Rotter JI, McCarthy MI. Nat Genet. 2018 Apr;50(4):559-571. doi: 10.1038/s41588-018-0084-1. Epub 2018 Apr 9.
  • Heritable contributions versus genetic architecture. Timpson NJ, Greenwood CMT, Soranzo N, Lawson DJ, Richards JB. Nat Rev Genet. 2018 Feb 14;19(3):185. doi: 10.1038/nrg.2018.7.
  • GeneSeqToFamily: a Galaxy workflow to find gene families based on the Ensembl Compara GeneTrees pipeline. Thanki AS, Soranzo N, Haerty W, Davey RP. Gigascience. 2018 Mar 1;7(3):1-10. doi: 10.1093/gigascience/giy005.
  • Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study. Hernandez-Fuentes MP, Franklin C, Rebollo-Mesa I, Mollon J, Delaney F, Perucha E, Stapleton C, Borrows R, Byrne C, Cavalleri G, Clarke B, Clatworthy M, Feehally J, Fuggle S, Gagliano SA, Griffin S, Hammad A, Higgins R, Jardine A, Keogan M, Leach T, MacPhee I, Mark PB, Marsh J, Maxwell P, McKane W, McLean A, Newstead C, Augustine T, Phelan P, Powis S, Rowe P, Sheerin N, Solomon E, Stephens H, Thuraisingham R, Trembath R, Topham P, Vaughan R, Sacks SH, Conlon P, Opelz G, Soranzo N, Weale ME, Lord GM; United Kingdom and Ireland Renal Transplant Consortium (UKIRTC) and the Wellcome Trust Case Control Consortium (WTCCC)-3. Am J Transplant. 2018 Jun;18(6):1370-1379. doi: 10.1111/ajt.14594.
  • Genetic architecture: the shape of the genetic contribution to human traits and disease.
  • Timpson NJ, Greenwood CMT, Soranzo N, Lawson DJ, Richards JB. Nat Rev Genet. 2018 Feb;19(2):110-124. doi: 10.1038/nrg.2017.101.
  • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B, Winkelmann J; 23andMe Research Team; DESIR study group. Lancet Neurol. 2017 Nov;16(11):898-907. doi: 10.1016/S1474-4422(17)30327-7.
  • Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. Wheeler E, Leong A, Liu CT, Hivert MF, Strawbridge RJ, Podmore C, Li M, Yao J, Sim X, Hong J, Chu AY, Zhang W, Wang X, Chen P, Maruthur NM, Porneala BC, Sharp SJ, Jia Y, Kabagambe EK, Chang LC, Chen WM, Elks CE, Evans DS, Fan Q, Giulianini F, Go MJ, Hottenga JJ, Hu Y, Jackson AU, Kanoni S, Kim YJ, Kleber ME, Ladenvall C, Lecoeur C, Lim SH, Lu Y, Mahajan A, Marzi C, Nalls MA, Navarro P, Nolte IM, Rose LM, Rybin DV, Sanna S, Shi Y, Stram DO, Takeuchi F, Tan SP, van der Most PJ, Van Vliet-Ostaptchouk JV, Wong A, Yengo L, Zhao W, Goel A, Martinez Larrad MT, Radke D, Salo P, Tanaka T, van Iperen EPA, Abecasis G, Afaq S, Alizadeh BZ, Bertoni AG, Bonnefond A, Böttcher Y, Bottinger EP, Campbell H, Carlson OD, Chen CH, Cho YS, Garvey WT, Gieger C, Goodarzi MO, Grallert H, Hamsten A, Hartman CA, Herder C, Hsiung CA, Huang J, Igase M, Isono M, Katsuya T, Khor CC, Kiess W, Kohara K, Kovacs P, Lee J, Lee WJ, Lehne B, Li H, Liu J, Lobbens S, Luan J, Lyssenko V, Meitinger T, Miki T, Miljkovic I, Moon S, Mulas A, Müller G, Müller-Nurasyid M, Nagaraja R, Nauck M, Pankow JS, Polasek O, Prokopenko I, Ramos PS, Rasmussen-Torvik L, Rathmann W, Rich SS, Robertson NR, Roden M, Roussel R, Rudan I, Scott RA, Scott WR, Sennblad B, Siscovick DS, Strauch K, Sun L, Swertz M, Tajuddin SM, Taylor KD, Teo YY, Tham YC, Tönjes A, Wareham NJ, Willemsen G, Wilsgaard T, Hingorani AD; EPIC-CVD Consortium; EPIC-InterAct Consortium; Lifelines Cohort Study, Egan J, Ferrucci L, Hovingh GK, Jula A, Kivimaki M, Kumari M, Njølstad I, Palmer CNA, Serrano Ríos M, Stumvoll M, Watkins H, Aung T, Blüher M, Boehnke M, Boomsma DI, Bornstein SR, Chambers JC, Chasman DI, Chen YI, Chen YT, Cheng CY, Cucca F, de Geus EJC, Deloukas P, Evans MK, Fornage M, Friedlander Y, Froguel P, Groop L, Gross MD, Harris TB, Hayward C, Heng CK, Ingelsson E, Kato N, Kim BJ, Koh WP, Kooner JS, Körner A, Kuh D, Kuusisto J, Laakso M, Lin X, Liu Y, Loos RJF, Magnusson PKE, März W, McCarthy MI, Oldehinkel AJ, Ong KK, Pedersen NL, Pereira MA, Peters A, Ridker PM, Sabanayagam C, Sale M, Saleheen D, Saltevo J, Schwarz PE, Sheu WHH, Snieder H, Spector TD, Tabara Y, Tuomilehto J, van Dam RM, Wilson JG, Wilson JF, Wolffenbuttel BHR, Wong TY, Wu JY, Yuan JM, Zonderman AB, Soranzo N, Guo X, Roberts DJ, Florez JC, Sladek R, Dupuis J, Morris AP, Tai ES, Selvin E, Rotter JI, Langenberg C, Barroso I, Meigs JB. PLoS Med. 2017 Sep 12;14(9):e1002383. doi: 10.1371/journal.pmed.1002383. Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. Rosendahl J, Kirsten H, Hegyi E, Kovacs P, Weiss FU, Laumen H, Lichtner P, Ruffert C, Chen JM, Masson E, Beer S, Zimmer C, Seltsam K, Algül H, Bühler F, Bruno MJ, Bugert P, Burkhardt R, Cavestro GM, Cichoz-Lach H, Farré A, Frank J, Gambaro G, Gimpfl S, Grallert H, Griesmann H, Grützmann R, Hellerbrand C, Hegyi P, Hollenbach M, Iordache S, Jurkowska G, Keim V, Kiefer F, Krug S, Landt O, Leo MD, Lerch MM, Lévy P, Löffler M, Löhr M, Ludwig M, Macek M, Malats N, Malecka-Panas E, Malerba G, Mann K, Mayerle J, Mohr S, Te Morsche RHM, Motyka M, Mueller S, Müller T, Nöthen MM, Pedrazzoli S, Pereira SP, Peters A, Pfützer R, Real FX, Rebours V, Ridinger M, Rietschel M, Rösmann E, Saftoiu A, Schneider A, Schulz HU, Soranzo N, Soyka M, Simon P, Skipworth J, Stickel F, Strauch K, Stumvoll M, Testoni PA, Tönjes A, Werner L, Werner J, Wodarz N, Ziegler M, Masamune A, Mössner J, Férec C, Michl P, P H Drenth J, Witt H, Scholz M, Sahin-Tóth M; all members of the PanEuropean Working group on ACP. Gut. 2018 Oct;67(10):1855-1863. doi: 10.1136/gutjnl-2017-314454.
  • Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, Kutalik Z, Luan J, Malkin I, Ried JS, Smith AV, Thorleifsson G, Vandenput L, Hua Zhao J, Zhang W, Aghdassi A, Åkesson K, Amin N, Baier LJ, Barroso I, Bennett DA, Bertram L, Biffar R, Bochud M, Boehnke M, Borecki IB, Buchman AS, Byberg L, Campbell H, Campos Obanda N, Cauley JA, Cawthon PM, Cederberg H, Chen Z, Cho NH, Jin Choi H, Claussnitzer M, Collins F, Cummings SR, De Jager PL, Demuth I, Dhonukshe-Rutten RAM, Diatchenko L, Eiriksdottir G, Enneman AW, Erdos M, Eriksson JG, Eriksson J, Estrada K, Evans DS, Feitosa MF, Fu M, Garcia M, Gieger C, Girke T, Glazer NL, Grallert H, Grewal J, Han BG, Hanson RL, Hayward C, Hofman A, Hoffman EP, Homuth G, Hsueh WC, Hubal MJ, Hubbard A, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koistinen HA, Kraus WE, Kritchevsky S, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Launer LJ, Lee JY, Lerch MM, Lewis JR, Lind L, Lindgren C, Liu Y, Liu T, Liu Y, Ljunggren Ö, Lorentzon M, Luben RN, Maixner W, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Melov S, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Newman A, Nielson CM, O’Connell JR, Oostra BA, Orwoll ES, Palotie A, Parker SCJ, Peacock M, Perola M, Peters A, Polasek O, Prince RL, Räikkönen K, Ralston SH, Ripatti S, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schadt EE, Schipf S, Scott L, Sehmi J, Shen J, Soo Shin C, Sigurdsson G, Smith S, Soranzo N, Stančáková A, Steinhagen-Thiessen E, Streeten EA, Styrkarsdottir U, Swart KMA, Tan ST, Tarnopolsky MA, Thompson P, Thomson CA, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Tuomilehto J, van Schoor NM, Verma A, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, Weedon MN, Welch R, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Xie W, Yu L, Zhou Y, Chambers JC, Döring A, van Duijn CM, Econs MJ, Gudnason V, Kooner JS, Psaty BM, Spector TD, Stefansson K, Rivadeneira F, Uitterlinden AG, Wareham NJ, Ossowski V, Waterworth D, Loos RJF, Karasik D, Harris TB, Ohlsson C, Kiel DP. Nat Commun. 2017 Jul 19;8(1):80. doi: 10.1038/s41467-017-00031-7.
  • Platelet function is modified by common sequence variation in megakaryocyte super enhancers. Petersen R, Lambourne JJ, Javierre BM, Grassi L, Kreuzhuber R, Ruklisa D, Rosa IM, Tomé AR, Elding H, van Geffen JP, Jiang T, Farrow S, Cairns J, Al-Subaie AM, Ashford S, Attwood A, Batista J, Bouman H, Burden F, Choudry FA, Clarke L, Flicek P, Garner SF, Haimel M, Kempster C, Ladopoulos V, Lenaerts AS, Materek PM, McKinney H, Meacham S, Mead D, Nagy M, Penkett CJ, Rendon A, Seyres D, Sun B, Tuna S, van der Weide ME, Wingett SW, Martens JH, Stegle O, Richardson S, Vallier L, Roberts DJ, Freson K, Wernisch L, Stunnenberg HG, Danesh J, Fraser P, Soranzo N, Butterworth AS, Heemskerk JW, Turro E, Spivakov M, Ouwehand WH, Astle WJ, Downes K, Kostadima M, Frontini M. Nat Commun. 2017 Jul 13;8:16058. doi: 10.1038/ncomms16058.
  • Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O’Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.
  • Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. 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. Nat Commun. 2017 Jun 23;8:15927. doi: 10.1038/ncomms15927.
  • 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 I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E. Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25.
  • The impact of rare and low-frequency genetic variants in common disease. Bomba L, Walter K, Soranzo N. Genome Biol. 2017 Apr 27;18(1):77. doi: 10.1186/s13059-017-1212-4.
  • ReGaTE: Registration of Galaxy Tools in Elixir. Doppelt-Azeroual O, Mareuil F, Deveaud E, Kalaš M, Soranzo N, van den Beek M, Grüning B, Ison J, Ménager H. Gigascience. 2017 Jun 1;6(6):1-4. doi: 10.1093/gigascience/gix022.
  • Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, Aïssi D, Chen L, Vasquez L, Allum F, Guénard F, Bouzigon E, Simon MM, Boulier E, Redensek A, Watt S, Datta A, Clarke L, Flicek P, Mead D, Paul DS, Beck S, Bourque G, Lathrop M, Tchernof A, Vohl MC, Demenais F, Pin I, Downes K, Stunnenberg HG, Soranzo N, Pastinen T, Grundberg E. Genome Biol. 2017 Mar 10;18(1):50.  DOI: 10.1186/s13059-017-1173-7
  • Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM, Carrillo de Santa Pau E, Juan D, Mann AL, Watt S, Casale FP, Sidiropoulos N, Rapin N, Merkel A; BLUEPRINT Consortium, Stunnenberg HG, Stegle O, Frontini M, Downes K, Pastinen T, Kuijpers TW, Rico D, Valencia A, Beck S, Soranzo N, Paul DS. Genome Biol. 2017 Jan 26;18(1):18 PUBMED: 28126036; PMC: 5270224; DOI: 10.1186/s13059-017-1156-8
  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, Datta A, Richardson D, Burden F, Mead D, Mann AL, Fernandez JM, Rowlston S, Wilder SP, Farrow S, Shao X, Lambourne JJ, Redensek A, Albers CA, Amstislavskiy V, Ashford S, Berentsen K, Bomba L, Bourque G, Bujold D, Busche S, Caron M, Chen SH, Cheung W, Delaneau O, Dermitzakis ET, Elding H, Colgiu I, Bagger FO, Flicek P, Habibi E, Iotchkova V, Janssen-Megens E, Kim B, Lehrach H, Lowy E, Mandoli A, Matarese F, Maurano MT, Morris JA, Pancaldi V, Pourfarzad F, Rehnstrom K, Rendon A, Risch T, Sharifi N, Simon MM, Sultan M, Valencia A, Walter K, Wang SY, Frontini M, Antonarakis SE, Clarke L, Yaspo ML, Beck S, Guigo R, Rico D, Martens JH, Ouwehand WH, Kuijpers TW, Paul DS, Stunnenberg HG, Stegle O, Downes K, Pastinen T, Soranzo N. Cell. 2016 Nov 17;167(5):1398-1414.e24 PUBMED: 27863251; PMC: 5119954; DOI: 10.1016/j.cell.2016.10.042
  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S, Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JH, Meacham S, Megy K, O’Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N. Cell. 2016 Nov 17;167(5):1415-1429.e19. PUBMED: 27863252; DOI: 10.1016/j.cell.2016.10.042
  • Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, Min JL, Chen L, Astle W, Cocca M, Deelen P, Elding H, Farmaki AE, Franklin CS, Franberg M, Gaunt TR, Hofman A, Jiang T, Kleber ME, Lachance G, Luan J, Malerba G, Matchan A, Mead D, Memari Y, Ntalla I, Panoutsopoulou K, Pazoki R, Perry JR, Rivadeneira F, Sabater-Lleal M, Sennblad B, Shin SY, Southam L, Traglia M, van Dijk F, van Leeuwen EM, Zaza G, Zhang W; UK10K Consortium., Amin N, Butterworth A, Chambers JC, Dedoussis G, Dehghan A, Franco OH, Franke L, Frontini M, Gambaro G, Gasparini P, Hamsten A, Issacs A, Kooner JS, Kooperberg C, Langenberg C, Marz W, Scott RA, Swertz MA, Toniolo D, Uitterlinden AG, van Duijn CM, Watkins H, Zeggini E, Maurano MT, Timpson NJ, Reiner AP, Auer PL, Soranzo N. Nat Genet. 2016 Nov;48(11):1303-1312 PUBMED: 27668658; PMC: 5279872; DOI: 10.1038/ng.3668
  • From GWAS to function: lessons from blood cells. Vasquez LJ, Mann AL, Chen L, Soranzo N. ISBT Sci Ser. 2016 Jan;11(Suppl Suppl 1):211-219. PUBMED: 27347004; PMC: 4916502
  • Human genomics: The end of the start for population sequencing. Birney E, Soranzo N. Nature. 2015 Oct 1;526(7571):52-3. PUBMED: 26432243; DOI: 10.1038/526052a
  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
 Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF, UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N. Nature communications 2015;6;8111 PUBMED: 26368830; PMC: 4579394; DOI: 1038/ncomms9111
  • The UK10K project identifies rare variants in health and disease.
 UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N
 Nature 2015;526;7571;82-90 PUBMED: 26367797; PMC: 4773891; DOI: 1038/nature14962
  • Transcriptional diversity during lineage commitment of human blood progenitors.
 Chen L, Kostadima M, Martens JH, Canu G, Garcia, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SB, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, BRIDGE Consortium, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HH, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A. Science (New York, N.Y.) 2014;345;6204;1251033 PUBMED: 25258084; PMC: 4254742; DOI: 1126/science.1251033
  • A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
 Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N, UK1OK Consortium Members, UK1OK Consortium Members. Nature communications 2014;5;4871 PUBMED: 25225788; PMC: 4167609; DOI: 1038/ncomms5871
  • An atlas of genetic influences on human blood metabolites.
 Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J, Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L, Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L, Grundberg E, Multiple Tissue Human Expression Resource (MuTHER) Consortium, Waldenberger M, Richards JB, Mohney RP, Milburn MV, John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ, Gieger C, Kastenmüller G, Spector TD, Soranzo N. Nature genetics 2014;46;6;543-50 PUBMED:24816252; PMC: 4064254; DOI: 1038/ng.2982
  • Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids.
 Shin SY, Petersen AK, Wahl S, Zhai G, Römisch-Margl W, Small KS, Döring A, Kato BS, Peters A, Grundberg E, Prehn C, Wang-Sattler R, Wichmann HE, de Angelis MH, Illig T, Adamski J, Deloukas P, Spector TD, Suhre K, Gieger C, Soranzo N
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  • Biomarkers for type 2 diabetes and impaired fasting glucose using a nontargeted metabolomics approach.
 Menni C, Fauman E, Erte I, Perry JR, Kastenmüller, G Shin SY, Petersen AK, Hyde C, Psatha M, Ward KJ, Yuan W, Milburn M, Palmer CN, Frayling TM, Trimmer J, Bell JT, Gieger C, Mohney RP, Brosnan MJ, Suhre K, Soranzo N, Spector TD. 
Diabetes 2013;62;12;4270-6 PUBMED: 23884885; PMC: 3837024; DOI: 2337/db13-0570
  • Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.
Paul DS, Albers CA, Rendon A, Voss K, Stephens J, HaemGen Consortium, van der Harst P, Chambers JC, Soranzo N, Ouwehand WH and Deloukas P. Genome research 2013;23;7;1130-41
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  • Seventy-five genetic loci influencing the human red blood cell.
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. Nature 2011;480;7376;201-8
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  • A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 
Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, Menzel S, Altshuler D, Bradley JR, Bumpstead S, Burnett MS, Devaney J, Döring A, Elosua R, Epstein SE, Erber W, Falchi M, Garner SF, Ghori MJ, Goodall AH, Gwilliam R, Hakonarson HH, Hall AS, Hammond N, Hengstenberg C, Illig T, König IR, Knouff CW, McPherson R, Melander O, Mooser V, Nauck M, Nieminen MS, O’Donnell CJ, Peltonen L, Potter SC, Prokisch H, Rader DJ, Rice CM, Roberts R, Salomaa V, Sambrook J, Schreiber S, Schunkert H, Schwartz SM, Serbanovic-Canic J, Sinisalo J, Siscovick DS, Stark K, Surakka I, Stephens J, Thompson JR, Völker U, Völzke H, Watkins NA, Wells GA, Wichmann HE, Van Heel DA, Tyler-Smith C, Thein SL, Kathiresan S, Perola M, Reilly MP, Stewart AF, Erdmann J, Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH and Gieger C
. Nature genetics 2009;41;11;1182-90 
PUBMED: 19820697; PMC: 3108459; DOI: 1038/ng.467
  • Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
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  • A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. Soranzo N, Rendon A, Gieger C, Jones CI, Watkins NA, Menzel S, Döring A, Stephens J, Prokisch H, Erber W, Potter SC, Bray SL, Burns P, Jolley J, Falchi M, Kühnel B, Erdmann J, Schunkert H, Samani NJ, Illig T, Garner SF, Rankin A, Meisinger C, Bradley JR, Thein SL, Goodall AH, Spector TD, Deloukas P and Ouwehand WH. 
Blood 2009;113;16;3831-7 
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  • Variants in MTNR1B influence fasting glucose levels.
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 PUBMED: 19060907; PMC: 2682768; DOI: 1038/ng.290

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