ArticleAmerican journal of human genetics2017
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers, 8 of them syntheses that pooled it.
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119citing papers in PubMed, 8 pooled it
12.6field-weighted citation impact, top 1% of its field
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Who cites it
119 citing papers in PubMed, 8 syntheses or guidelines pooled it, 215 citations in OpenAlex.
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- A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models.BMC bioinformatics · 2026Article
- Metabolomic Signatures of Prediabetes in Mexican Americans: The Role of Genetics and Macronutrients.Advanced genetics (Hoboken, N.J.) · 2025Article
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59 more citing papers are in PubMed but not listed here.
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Authors and funding
108 authors at 20 institutions in 11 countries.
Ioanna TachmazidouThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Dániel SüvegesThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Josine L MinMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Graham R S RitchieThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; Usher Institute of Population Health Sciences & Informatics, University of Edinburgh, Edinburgh EH16 4UX, UK; MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH16 4UX, UK.
Julia SteinbergThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Klaudia WalterThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Valentina IotchkovaThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SD, UK.
Jeremy SchwartzentruberThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Jie HuangBoston VA Research Institute, Boston, MA 02130, USA.
Yasin MemariThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Shane McCarthyThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Andrew A CrawfordMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK; BHF Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK.
Cristina BombieriDepartment of Neurological, Biomedical and Movement Sciences, University of Verona, Verona 37134, Italy.
Massimiliano CoccaDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste 34100, Italy.
Aliki-Eleni FarmakiDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens 17671, Greece.
Tom R GauntMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Pekka JousilahtiDepartment of Health, National Institute for Health and Welfare, Helsinki 00271, Finland.
Marjolein N KooijmanThe Generation R Study Group, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Pediatrics, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Benjamin LehneDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK.
Giovanni MalerbaDepartment of Neurological, Biomedical and Movement Sciences, University of Verona, Verona 37134, Italy.
Satu MännistöDepartment of Health, National Institute for Health and Welfare, Helsinki 00271, Finland.
Angela MatchanThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Carolina Medina-GomezDepartment of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Sarah J MetrustryDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Abhishek NagDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Ioanna NtallaWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Lavinia PaternosterMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Nigel W RaynerThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK.
Cinzia SalaDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan 20132, Italy.
William R ScottDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK; Department of Cardiology, Ealing Hospital NHS Trust, Middlesex UB1 3EU, UK.
Hashem A ShihabMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Lorraine SouthamThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Beate St PourcainMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK; Max Planck Institute for Psycholinguistics, Nijmegen 6500, the Netherlands.
Michela TragliaDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan 20132, Italy.
Katerina TrajanoskaDepartment of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Gialuigi ZazaRenal Unit, Department of Medicine, Verona University Hospital, Verona 37126, Italy.
Weihua ZhangDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK; Department of Cardiology, Ealing Hospital NHS Trust, Middlesex UB1 3EU, UK.
María S ArtigasGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Narinder BansalCardiovascular Epidemiology Unit, Department of Public Health & Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Marianne BennFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.
Zhongsheng ChenDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Petr DanecekFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.
Wei-Yu LinCardiovascular Epidemiology Unit, Department of Public Health & Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Adam LockeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA; McDonnell Genome Institute, Washington University School of Medicine, Saint Louis, MO 63108, USA.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Alisa K ManningCenter for Human Genetics Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Medicine, Harvard University Medical School, Boston, MA 02115, USA.
Antonella MulasIstituto di Ricerca Genetica e Biomedica (IRGB-CNR), Cagliari 09100, Italy; Università degli Studi di Sassari, Sassari 07100, Italy.
Carlo SidoreIstituto di Ricerca Genetica e Biomedica (IRGB-CNR), Cagliari 09100, Italy.
Anne Tybjaerg-HansenFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.
Anette VarboFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.
Magdalena ZoledziewskaIstituto di Ricerca Genetica e Biomedica (IRGB-CNR), Cagliari 09100, Italy.
Chris FinanInstitute of Cardiovascular Science, Faculty of Population Health, University College London, London WC1E 6BT, UK.
Konstantinos HatzikotoulasThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Audrey E HendricksThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; Mathematical and Statistical Sciences, University of Colorado Denver, Denver, CO 80204, USA.
John P KempMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD 4072, Australia.
Alireza MoayyeriDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK; Institute of Health Informatics, University College London, London NW1 2DA, UK.
Kalliope PanoutsopoulouThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Michal SzpakThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Scott G WilsonDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK; School of Medicine and Pharmacology, The University of Western Australia, Crawley, WA 6009, Australia; Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Francesco CuccaIstituto di Ricerca Genetica e Biomedica (IRGB-CNR), Cagliari 09100, Italy; Università degli Studi di Sassari, Sassari 07100, Italy.
Emanuele Di AngelantonioCardiovascular Epidemiology Unit, Department of Public Health & Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Cambridge CB1 8RN, UK.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Cecilia LindgrenWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Li Ka Shing Centre for Health Information and Discovery, The Big Data Institute, University of Oxford, Oxford OX3 7BN, UK.
Mark I McCarthyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LJ, UK.
Andrew P MorrisWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Department of Biostatistics, University of Liverpool, Liverpool L69 3GL, UK; Estonian Genome Center, University of Tartu, Tartu, Tartumaa 51010, Estonia.
Børge G NordestgaardFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.
Robert A ScottMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Martin D TobinGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK; National Institute for Health Research (NIHR) Leicester Respiratory Biomedical Research Unit, Glenfield Hospital, Leicester LE3 9QP, UK.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
SpiroMeta Consortium
GoT2D Consortium
Paul BurtonD2K Research Group, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
John C ChambersDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK; Department of Cardiology, Ealing Hospital NHS Trust, Middlesex UB1 3EU, UK; Imperial College Healthcare NHS Trust, London W2 1NY, UK.
George Davey SmithMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
George DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens 17671, Greece.
Janine F FelixThe Generation R Study Group, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Pediatrics, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Oscar H FrancoDepartment of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Giovanni GambaroDivision of Nephrology and Dialysis, Columbus-Gemelli University Hospital, Catholic University, Rome 00168, Italy.
Paolo GaspariniDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste 34100, Italy; Medical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste 34100, Italy.
Christopher J HammondDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Vincent W V JaddoeThe Generation R Study Group, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Pediatrics, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Marcus KleberVth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Mannheim 68167, Germany.
Jaspal S KoonerDepartment of Cardiology, Ealing Hospital NHS Trust, Middlesex UB1 3EU, UK; Imperial College Healthcare NHS Trust, London W2 1NY, UK; National Heart and Lung Institute, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, UK.
Markus PerolaDepartment of Health, National Institute for Health and Welfare, Helsinki 00271, Finland; Estonian Genome Center, University of Tartu, Tartu, Tartumaa 51010, Estonia; Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki 00290, Finland.
Caroline ReltonMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Susan M RingMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
Veikko SalomaaDepartment of Health, National Institute for Health and Welfare, Helsinki 00271, Finland.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Oliver StegleEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SD, UK.
Daniela TonioloDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan 20132, Italy.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Rotterdam 3000 CA, the Netherlands.
arcOGEN Consortium
Understanding Society Scientific Group
UK10K Consortium
Inês BarrosoThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; University of Cambridge Metabolic Research Laboratories, and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Celia M T GreenwoodLady Davis Institute for Medical Research, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC H3A 1A2, Canada; Department of Oncology, McGill University, Montréal, QC H2W 1S6, Canada.
John R B PerryDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK; MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Brian R WalkerBHF Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK.
Adam S ButterworthCardiovascular Epidemiology Unit, Department of Public Health & Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Cambridge CB1 8RN, UK.
Yali XueThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Richard DurbinThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Kerrin S SmallDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Nicole SoranzoThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Cambridge CB1 8RN, UK; Department of Haematology, University of Cambridge, Cambridge CB2 0AH, UK.
Nicholas J TimpsonMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Eleftheria ZegginiThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK. Electronic address: eleftheria@sanger.ac.uk.
Wellcome Sanger Institute · GBUniversity of Bristol · GBUniversity of Cambridge · GBErasmus MC · NLKing's College London · GBCentre for Human Genetics · GBUniversity of Copenhagen · DKFinnish Institute for Health and Welfare · FIUniversity of Verona · ITEaling Hospital · GBEuropean Bioinformatics Institute · GBHarokopio University of Athens · GRImperial College Healthcare NHS Trust · GBInstitute of Genetic and Biomedical Research · ITUniversity of Leicester · GBUniversity of Michigan · USUniversity of Sassari · ITUniversity of Trieste · ITAgostino Gemelli University Polyclinic · ITBoston VA Research Institute · US
Funding
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3MIdentifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6MBritish Heart Foundation RG/08/014/24067British Heart Foundation RG/11/4/28734Chief Scientist Office CZB/4/733European Research Council 648916Medical Research Council G0100594Medical Research Council G0600237Medical Research Council G0900753Medical Research Council G0901461Medical Research Council G0902313Medical Research Council MC_PC_15018Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/2Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/8Medical Research Council MC_UU_12015/1Medical Research Council MC_UU_12015/2Medical Research Council MR/J012165/1Medical Research Council MR/K002279/1Medical Research Council MR/K002414/1Medical Research Council MR/L003120/1Medical Research Council MR/N01104X/1Medical Research Council MR/N01104X/2Medical Research Council MR/N011317/1NIDDK NIH HHS P30 DK020572NIDDK NIH HHS U01 DK062370Versus Arthritis 20308Wellcome Trust 202802/Z/16/Z
Abstract
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a different anthropometric trait. 71% of signals reside within genes and fine mapping resolves 23 signals to one or two likely causal variants. We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find signal enrichment in cis expression QTLs in relevant tissues. Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum.
Indexed as
AnthropometryGenome, HumanGenome-Wide Association StudyBody HeightCohort StudiesDatabases, GeneticDNA MethylationFemaleGenetic VariationHumansLipodystrophyMaleMeta-Analysis as TopicObesityPhysical Chromosome MappingQuantitative Trait LocianthropometryDXA traitsgenetic association studyimputationnext-generation whole-genome sequencingUK10KUK Biobank
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