UK10K COHORT TWINSUK

The UK10K project proposes a series of complementary genetic approaches to find new low-frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome-wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts (at 6x sequence coverage), and the exome sequence (protein-coding regions and related conserved sequence) of 6000 samples selected for extreme phenotypes. Our studies will focus primarily on cardiovascular-related quantitative traits, obesity and related metabolic traits, neurodevelopmental disorders and a limited number of extreme clinical phenotypes that will provide proof-of-concept for future familial trait sequencing. We will directly analyse quantitative traits in the cohorts and the selected traits in the extreme samples, and also use imputation down to 0.1% allele frequency to extend the analyses to further sample sets with genome wide genotype data. In each case we will investigate indels and larger structural variants as well as SNPs, and use statistical methods that combine rare variants in a locus or pathway as well as single-variant approaches. The TwinsUK samples will be part of the cohort study and will undergo whole genome sequencing. For further information with regard to this cohort please contact Brent Richards (brent.richards@kcl.ac.uk) or Nicole Soranzo (ns6@sanger.ac.uk).

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

4 Datasets 56 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001000194	UK10K_COHORT_TWINS REL-2011-12-01	Illumina Genome Analyzer II Illumina HiSeq 2000	1713
EGAD00001000741	UK10K_COHORT_TWINSUK REL-2012-06-02: Low-coverage whole genome sequencing; variant calling, genotype calling and phasing	Illumina Genome Analyzer II Illumina HiSeq 2000	1854
EGAD00001000776	UK10K_COHORT_IMPUTATION REL-2012-06-02: imputation reference panel (20140306); Merged UK10K+1000Genomes Phase 3 imputation reference panel added (20160420)	Illumina Genome Analyzer II Illumina HiSeq 2000	3781
EGAD00001000790	UK10K_COHORT_TWINSUK REL-2012-06-02: Phenotype data		1854

Publications	Citations
Detecting identity by descent and estimating genotype error rates in sequence data. Browning BL, Browning SR. Am J Hum Genet 93: 2013 840-851	104
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. Nat Commun 4: 2013 2872	63
Whole-genome sequence-based analysis of thyroid function. Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG, UK0K Consortium. Nat Commun 6: 2015 5681	63
Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer. Henrion MY, Purdue MP, Scelo G, Broderick P, Frampton M, Ritchie A, Meade A, Li P, McKay J, Johansson M, Lathrop M, Larkin J, Rothman N, Wang Z, Chow WH, Stevens VL, Diver WR, Albanes D, Virtamo J, Brennan P, Eisen T, Chanock S, Houlston RS. PLoS One 10: 2015 e0122589	17
An interactive genome browser of association results from the UK10K cohorts project. Geihs M, Yan Y, Walter K, Huang J, Memari Y, Min JL, Mead D, UK10K Consortium, Hubbard TJ, Timpson NJ, Down TA, Soranzo N. Bioinformatics 31: 2015 4029-4031	8
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G, AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM, UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB. Nature 526: 2015 112-117	336
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 526: 2015 82-90	616
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. Nat Commun 6: 2015 8111	203
Genome-wide association study identifies multiple susceptibility loci for glioma. Kinnersley B, Labussière M, Holroyd A, Di Stefano AL, Broderick P, Vijayakrishnan J, Mokhtari K, Delattre JY, Gousias K, Schramm J, Schoemaker MJ, Fleming SJ, Herms S, Heilmann S, Schreiber S, Wichmann HE, Nöthen MM, Swerdlow A, Lathrop M, Simon M, Bondy M, Sanson M, Houlston RS. Nat Commun 6: 2015 8559	76
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Vijayakrishnan J, Henrion M, Moorman AV, Fiege B, Kumar R, da Silva Filho MI, Holroyd A, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Bartram CR, Schrappe M, Greaves M, Hemminki K, Harrison CJ, Stanulla M, Houlston RS. Sci Rep 5: 2015 15065	24
Timing, rates and spectra of human germline mutation. Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, UK10K Consortium, Hurles ME. Nat Genet 48: 2016 126-133	326
A Protein Domain and Family Based Approach to Rare Variant Association Analysis. Richardson TG, Shihab HA, Rivas MA, McCarthy MI, Campbell C, Timpson NJ, Gaunt TR. PLoS One 11: 2016 e0153803	2
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. Mitchell JS, Li N, Weinhold N, Försti A, Ali M, van Duin M, Thorleifsson G, Johnson DC, Johnson DC, Chen B, Halvarsson BM, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Einsele H, Gregory WA, Gullberg U, Henrion M, Hillengass J, Hoffmann P, Jackson GH, Johnsson E, Jöud M, Kristinsson SY, Lenhoff S, Lenive O, Mellqvist UH, Migliorini G, Nahi H, Nelander S, Nickel J, Nöthen MM, Rafnar T, Ross FM, da Silva Filho MI, Swaminathan B, Thomsen H, Turesson I, Vangsted A, Vogel U, Waage A, Walker BA, Wihlborg AK, Broyl A, Davies FE, Thorsteinsdottir U, Langer C, Hansson M, Kaiser M, Sonneveld P, Stefansson K, Morgan GJ, Goldschmidt H, Hemminki K, Nilsson B, Houlston RS. Nat Commun 7: 2016 12050	104
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 JRB, 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 48: 2016 1303-1312	50
A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Vijayakrishnan J, Kumar R, Henrion MY, Moorman AV, Rachakonda PS, Hosen I, da Silva Filho MI, Holroyd A, Dobbins SE, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Greaves M, Harrison CJ, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS. Leukemia 31: 2017 573-579	55
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J. Neurology 87: 2016 1975-1984	40
Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. Shim H, Kim JH, Kim CY, Hwang S, Kim H, Yang S, Lee JE, Lee I. Nucleic Acids Res 44: 2016 9611-9623	14
A combined reference panel from the 1000 Genomes and UK10K projects improved rare variant imputation in European and Chinese samples. Chou WC, Zheng HF, Cheng CH, Yan H, Wang L, Han F, Richards JB, Karasik D, Kiel DP, Hsu YH. Sci Rep 6: 2016 39313	24
Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. Law PJ, Berndt SI, Speedy HE, Camp NJ, Sava GP, Skibola CF, Holroyd A, Joseph V, Sunter NJ, Nieters A, Bea S, Monnereau A, Martin-Garcia D, Goldin LR, Clot G, Teras LR, Quintela I, Birmann BM, Jayne S, Cozen W, Majid A, Smedby KE, Lan Q, Dearden C, Brooks-Wilson AR, Hall AG, Purdue MP, Mainou-Fowler T, Vajdic CM, Jackson GH, Cocco P, Marr H, Zhang Y, Zheng T, Giles GG, Lawrence C, Call TG, Liebow M, Melbye M, Glimelius B, Mansouri L, Glenn M, Curtin K, Diver WR, Link BK, Conde L, Bracci PM, Holly EA, Jackson RD, Tinker LF, Benavente Y, Boffetta P, Brennan P, Maynadie M, McKay J, Albanes D, Weinstein S, Wang Z, Caporaso NE, Morton LM, Severson RK, Riboli E, Vineis P, Vermeulen RC, Southey MC, Milne RL, Clavel J, Topka S, Spinelli JJ, Kraft P, Ennas MG, Summerfield G, Ferri GM, Harris RJ, Miligi L, Pettitt AR, North KE, Allsup DJ, Fraumeni JF, Bailey JR, Offit K, Pratt G, Hjalgrim H, Pepper C, Chanock SJ, Fegan C, Rosenquist R, de Sanjose S, Carracedo A, Dyer MJ, Catovsky D, Campo E, Cerhan JR, Allan JM, Rothman N, Houlston R, Slager S. Nat Commun 8: 2017 14175	56
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Melin BS, Barnholtz-Sloan JS, Wrensch MR, Johansen C, Il'yasova D, Kinnersley B, Ostrom QT, Labreche K, Chen Y, Armstrong G, Liu Y, Eckel-Passow JE, Decker PA, Labussière M, Idbaih A, Hoang-Xuan K, Di Stefano AL, Mokhtari K, Delattre JY, Broderick P, Galan P, Gousias K, Schramm J, Schoemaker MJ, Fleming SJ, Herms S, Heilmann S, Nöthen MM, Wichmann HE, Schreiber S, Swerdlow A, Lathrop M, Simon M, Sanson M, Andersson U, Rajaraman P, Chanock S, Linet M, Wang Z, Yeager M, GliomaScan Consortium, Wiencke JK, Hansen H, McCoy L, Rice T, Kosel ML, Sicotte H, Amos CI, Bernstein JL, Davis F, Lachance D, Lau C, Merrell RT, Shildkraut J, Ali-Osman F, Sadetzki S, Scheurer M, Shete S, Lai RK, Claus EB, Olson SH, Jenkins RB, Houlston RS, Bondy ML. Nat Genet 49: 2017 789-794	190
GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing. Spiliopoulou A, Colombo M, Orchard P, Agakov F, McKeigue P. Genetics 206: 2017 91-104	21
Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data. Wu Y, Zheng Z, Visscher PM, Yang J. Genome Biol 18: 2017 86	57
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 100: 2017 865-884	94
The impact of rare variation on gene expression across tissues. Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD, GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Hall IM, Battle A, Montgomery SB. Nature 550: 2017 239-243	137
Independent impacts of aging on mitochondrial DNA quantity and quality in humans. Zhang R, Wang Y, Ye K, Picard M, Gu Z. BMC Genomics 18: 2017 890	88
De novo mutations implicate novel genes in systemic lupus erythematosus. Pullabhatla V, Roberts AL, Lewis MJ, Mauro D, Morris DL, Odhams CA, Tombleson P, Liljedahl U, Vyse S, Simpson MA, Sauer S, de Rinaldis E, Syvänen AC, Vyse TJ. Hum Mol Genet 27: 2018 421-429	24
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. Sud A, Thomsen H, Law PJ, Försti A, Filho MIDS, Holroyd A, Broderick P, Orlando G, Lenive O, Wright L, Cooke R, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, PRACTICAL consortium, Hoffmann P, Nöthen MM, Jöckel KH, Strandmann EPV, Lightfoot T, Kane E, Roman E, Lake A, Montgomery D, Jarrett RF, Swerdlow AJ, Engert A, Orr N, Hemminki K, Houlston RS. Nat Commun 8: 2017 1892	29
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Farmery JHR, Smith ML, NIHR BioResource - Rare Diseases, Lynch AG. Sci Rep 8: 2018 1300	37
Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan Admixture. Browning SR, Browning BL, Zhou Y, Tucci S, Akey JM. Cell 173: 2018 53-61.e9	148
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law PJ, Kumar R, Allan JM, Harrison CJ, Moorman AV, Vora A, Roman E, Rachakonda S, Kinsey SE, Sheridan E, Thompson PD, Irving JA, Koehler R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Easton DF, Pharaoh PDP, Dunning AM, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N, PRACTICAL Consortium, Greaves M, Zimmerman M, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS. Nat Commun 9: 2018 1340	47
Combined linkage and association analysis of classical Hodgkin lymphoma. Lawrie A, Han S, Sud A, Hosking F, Cezard T, Turner D, Clark C, Murray GI, Culligan DJ, Houlston RS, Vickers MA. Oncotarget 9: 2018 20377-20385	7
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5. Claus EB, Cornish AJ, Broderick P, Schildkraut JM, Dobbins SE, Holroyd A, Calvocoressi L, Lu L, Hansen HM, Smirnov I, Walsh KM, Schramm J, Hoffmann P, Nöthen MM, Jöckel KH, Swerdlow A, Larsen SB, Johansen C, Simon M, Bondy M, Wrensch M, Houlston RS, Wiemels JL. Neuro Oncol 20: 2018 1485-1493	17
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. Sud A, Thomsen H, Orlando G, Försti A, Law PJ, Broderick P, Cooke R, Hariri F, Pastinen T, Easton DF, Pharoah PDP, Dunning AM, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, Campa D, PRACTICAL Consortium, Hoffmann P, Nöthen MM, Jöckel KH, von Strandmann EP, Swerdlow AJ, Engert A, Orr N, Orr N, Hemminki K, Houlston RS. Blood 132: 2018 2040-2052	15
ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls. Hendricks AE, Billups SC, Pike HNC, Farooqi IS, Zeggini E, Santorico SA, Barroso I, Dupuis J. PLoS Genet 14: 2018 e1007591	21
Detecting the dominance component of heritability in isolated and outbred human populations. Herzig AF, Nutile T, Ruggiero D, Ciullo M, Perdry H, Leutenegger AL. Sci Rep 8: 2018 18048	3
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ, UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Nat Commun 10: 2019 357	18
Mendelian randomization provides support for obesity as a risk factor for meningioma. Takahashi H, Cornish AJ, Sud A, Law PJ, Disney-Hogg L, Calvocoressi L, Lu L, Hansen HM, Smirnov I, Walsh KM, Schramm J, Hoffmann P, Nöthen MM, Jöckel KH, Schildkraut JM, Simon M, Bondy M, Wrensch M, Wiemels JL, Claus EB, Turnbull C, Houlston RS. Sci Rep 9: 2019 309	14
Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait. Chundru VK, Marioni RE, Prendergast JGD, Vallerga CL, Lin T, Beveridge AJ, SGPD Consortium, Gratten J, Hume DA, Deary IJ, Wray NR, Visscher PM, McRae AF. Genetics 212: 2019 577-586	1
Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus. Odhams CA, Roberts AL, Vester SK, Duarte CST, Beales CT, Clarke AJ, Lindinger S, Daffern SJ, Zito A, Chen L, Jones LL, Boteva L, Morris DL, Small KS, Fernando MMA, Cunninghame Graham DS, Vyse TJ. Nat Commun 10: 2019 2164	54
An estimator of first coalescent time reveals selection on young variants and large heterogeneity in rare allele ages among human populations. Platt A, Pivirotto A, Knoblauch J, Hey J. PLoS Genet 15: 2019 e1008340	13
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk. Vijayakrishnan J, Qian M, Studd JB, Yang W, Kinnersley B, Law PJ, Broderick P, Raetz EA, Allan J, Pui CH, Vora A, Evans WE, Moorman A, Yeoh A, Yang W, Li C, Bartram CR, Mullighan CG, Zimmerman M, Hunger SP, Schrappe M, Relling MV, Stanulla M, Loh ML, Houlston RS, Yang JJ. Nat Commun 10: 2019 5348	47
Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data. Wu Y, Qi T, Wang H, Zhang F, Zheng Z, Phillips-Cremins JE, Deary IJ, McRae AF, Wray NR, Zeng J, Yang J. Nat Commun 11: 2020 2061	6
Extension of SKAT to multi-category phenotypes through a geometrical interpretation. Bocher O, Marenne G, Tournier-Lasserve E, FREX Consortium,, Génin E, Perdry H. Eur J Hum Genet 29: 2021 736-744	1
An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities. Palles C, Fotheringham S, Chegwidden L, Lucas M, Kerr R, Mozolowski G, Rosmarin D, Taylor JC, Tomlinson I, Kerr D. Cancers (Basel) 13: 2021 1497	8
Composite trait Mendelian randomization reveals distinct metabolic and lifestyle consequences of differences in body shape. Sulc J, Sonrel A, Mounier N, Auwerx C, Marouli E, Darrous L, Draganski B, Kilpeläinen TO, Joshi P, Loos RJF, Kutalik Z. Commun Biol 4: 2021 1064	15
Improved analyses of GWAS summary statistics by reducing data heterogeneity and errors. Chen W, Wu Y, Zheng Z, Qi T, Visscher PM, Zhu Z, Yang J. Nat Commun 12: 2021 7117	31
Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics. Darrous L, Mounier N, Kutalik Z. Nat Commun 12: 2021 7274	40
Whole-genome risk prediction of common diseases in human preimplantation embryos. Kumar A, Im K, Banjevic M, Ng PC, Tunstall T, Garcia G, Galhardo L, Sun J, Schaedel ON, Levy B, Hongo D, Kijacic D, Kiehl M, Tran ND, Klatsky PC, Rabinowitz M. Nat Med 28: 2022 513-516	24
Genetic and phenotypic links between obesity and extracellular vesicles. Zhai R, Pan L, Yang Z, Li T, Ning Z, Pawitan Y, Wilson JF, Wu D, Shen X. Hum Mol Genet 31: 2022 3643-3651	1
Mendelian randomization accounting for complex correlated horizontal pleiotropy while elucidating shared genetic etiology. Cheng Q, Zhang X, Chen LS, Liu J. Nat Commun 13: 2022 6490	17
Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases. Sadler MC, Auwerx C, Lepik K, Porcu E, Kutalik Z. Nat Commun 13: 2022 7559	13
Multi-layered genetic approaches to identify approved drug targets. Sadler MC, Auwerx C, Deelen P, Kutalik Z. Cell Genom 3: 2023 100341	9
Dual-systems models of the genetic architecture of impulsive personality traits: neurogenetic evidence of distinct but related factors. Miller AP, Gizer IR. Psychol Med 54: 2024 1533-1543	3
Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts. Lee S, Kim J, Ohn JH. BMC Genomics 24: 2023 787	0
Genetic determinants of IgG antibody response to COVID-19 vaccination. Bian S, Guo X, Yang X, Wei Y, Yang Z, Cheng S, Yan J, Chen Y, Chen GB, Du X, Francis SS, Shu Y, Liu S. Am J Hum Genet 111: 2024 181-199	1
Imputation accuracy across global human populations. Cahoon JL, Rui X, Tang E, Simons C, Langie J, Chen M, Lo YC, Chiang CWK. Am J Hum Genet 111: 2024 979-989	1