Dr Eirini MarouliReader in Computational Biology, Deputy Lead MSc Genomic Medicine, Lead Post Graduate Taught Courses (PGT), Deputy Lead EDI, Fellow Digital Environment Research Institute (DERI)Centre: Clinical Pharmacology and Precision MedicineEmail: e.marouli@qmul.ac.ukTwitter: @MarouliEirini ProfileResearchPublicationsProfileDr Eirini Marouli is a Reader in Computational Biology at the William Harvey Research Institute, Queen Mary University of London. Dr Marouli’s research interests lie in the interface of genetics, bioinformatics and artificial intelligence. She has developed a BBC Documentary Reel on Adult height. Dr Marouli is the Deputy Lead for the MSc Genomic Medicine, WHRI Post-Graduate Taught Course (PGT) Lead and Deputy Equality Diversity and Inclusion (EDI) Academic Lead, and Fellow at the Digital Environment Research Institute (DERI). Dr Marouli boasts coherent and multidisciplinary research experience with high quality outputs across her research career. She has leading work in international consortia, working on cutting-edge research on complex traits and disease, thyroid function and thyroid cancer. She graduated with a BSc in Biology and a MSc in Clinical Biochemistry from the University of Athens, Greece. Dr Marouli was awarded a PhD in Genetics from the University of Athens studying the genetic overlap between type 2 diabetes and psychiatric disease. Eirini joined the William Harvey Research Institute in July 2014, as a Greek State Scholarships Foundation Fellow. She completed her postdoctoral training with Professor Panos Deloukas. During this period, she had a leading role in the GIANT (Genetic Investigation of Anthropometric Traits) consortium, investigating the role of rare and low-frequency coding variants in human adult height (Marouli et al., Nature 2017). She is running the Book Club at QMUL, focusing on topics related to Equality, Diversity, Inclusion and Mental Health. Awards Early Career Researcher of the Year – UK Biobank 2019 meeting Nomination: American Society of Human Genetic’s Trainee Paper Spotlight 2018, for the paper: “Rare and low-frequency coding variants alter human adult height", Nature, 2017 2016 ASHG/Charles J. Epstein Trainee Award for Excellence in Human Genetics Research -Semifinalist The Genomics of Common Diseases congress, 2015, Wellcome Genome Campus, Hinxton, Cambridge (Travel Grant) Find me on: Researchgate Google Scholar ORCID ID: 0000-0001-6179-1609 LinkedIn ResearchResearch Interests:Dr Marouli brings multi-disciplinary expertise involving her excellent background in both laboratory skills and bioinformatics expertise encompassing the biology of the thyroid gland and cancer, along with big data and multi-modal data analysis incorporating genetics. Dr Marouli’s leadership skills are reflected in the successful management of international projects and collaborations. Her work focuses on using human genetics to identify genes that influence common diseases and quantitative traits, including height and adiposity. Dr Marouli implements novel computational methods, including machine learning, to gain biological insights from human genetics and phenotypic data. She has a leading role in the large international consortium (GIANT) that has discovered almost all of the genetic variants that are known to influence human height and obesity related traits. She also has leading role in projects collaborating with ThyroidOMICS consortium working on cutting-edge research on thyroid function. Dr Marouli specialises on the genetics of thyroid function and disease. Her recent work integrates the use of genetic data and a battery of state-of-the-art approaches, for causal inference and mendelian randomisation and machine learning to elucidate the genetic interplay between risk factors and disease. Dr Marouli has also leading work and contributions in global consortia (GLGC, CHARGE CARDIoGRAMplusC4D) for complex traits and diseases. In addition to gene discovery efforts, Dr Marouli is also interested in genetic-epigenetic approaches to complex phenotypes.Publications Ellervik C, Boulakh L, Teumer A et al. (2024). Thyroid Function, Diabetes, and Common Age-Related Eye Diseases: A Mendelian Randomization Study. nameOfConference DOI: 10.1089/thy.2024.0257 QMRO: qmroHref Papadopoulou A, Harding D, Slabaugh G et al. (2024). Prediction of atrial fibrillation and stroke using machine learning models in UK Biobank. nameOfConference DOI: 10.1016/j.heliyon.2024.e28034 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/95921 Babajide O, Kjaergaard AD, Deng W et al. (publicationYear). The role of thyroid function in borderline personality disorder and schizophrenia: a Mendelian Randomisation study. nameOfConference DOI: 10.1186/s40479-024-00246-3 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/95724 Sterenborg RBTM, Steinbrenner I, Li Y et al. (publicationYear). Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications. nameOfConference DOI: 10.1038/s41467-024-44701-9 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/95973 Slabaugh G, Beltran L, Rizvi H et al. (publicationYear). Applications of machine and deep learning to thyroid cytology and histopathology: a review. nameOfConference DOI: 10.3389/fonc.2023.958310 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/94545 Papadopoulou A, Åsvold BO, Burgess S et al. (2023). Height, Autoimmune Thyroid Disease, and Thyroid Cancer: A Mendelian Randomization Study. nameOfConference DOI: 10.1089/thy.2023.0272 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93832 Willems SM, Ng NHJ, Fernandez J et al. (publicationYear). Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization. nameOfConference DOI: 10.12688/wellcomeopenres.18754.1 QMRO: qmroHref Hawkes G, Yengo L, Vedantam S et al. (publicationYear). Identification and analysis of individuals who deviate from their genetically-predicted phenotype. nameOfConference DOI: 10.1371/journal.pgen.1010934 QMRO: qmroHref L Y, S V, E M et al. (publicationYear). A saturated map of common genetic variants associated with human height. nameOfConference DOI: 10.1530/ey.20.3.16 QMRO: qmroHref Kanai M, Andrews SJ, Cordioli M et al. (2023). A second update on mapping the human genetic architecture of COVID-19. nameOfConference DOI: 10.1038/s41586-023-06355-3 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/92320 Sterenborg R, Steinbrenner I, Li Y et al. (publicationYear). Multi-Trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications. nameOfConference DOI: 10.1530/endoabs.92.op-05-04 QMRO: qmroHref Graham SE, Clarke SL, Wu K-HH et al. (2023). Author Correction: The power of genetic diversity in genome-wide association studies of lipids. nameOfConference DOI: 10.1038/s41586-023-06194-2 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/92162 Baronas JM, Bartell E, Eliasen A et al. (2023). Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci. nameOfConference DOI: 10.1016/j.xgen.2023.100299 QMRO: qmroHref Kafyra M, Kalafati IP, Dimitriou M et al. (publicationYear). Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults. nameOfConference DOI: 10.3390/jpm13020327 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93823 Kanoni S, Graham SE, Wang Y et al. (publicationYear). Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. nameOfConference DOI: 10.1186/s13059-022-02837-1 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/84269 Yengo L, Vedantam S, Marouli E et al. (2022). A saturated map of common genetic variants associated with human height. nameOfConference DOI: 10.1038/s41586-022-05275-y QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/84268 Ramdas S, Judd J, Graham SE et al. (2022). A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. nameOfConference DOI: 10.1016/j.ajhg.2022.06.012 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/84264 Raghavan S, Huang J, Tcheandjieu C et al. (publicationYear). A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program. nameOfConference DOI: 10.1371/journal.pgen.1010193 QMRO: qmroHref Wielscher M, Mandaviya PR, Kuehnel B et al. (publicationYear). DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. nameOfConference DOI: 10.1038/s41467-022-29792-6 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/84487 Kjaergaard AD, Teumer A, Marouli E et al. (2022). Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study. nameOfConference DOI: 10.1093/hmg/ddac052 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93834 Hawe JS, Wilson R, Schmid KT et al. (2022). Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function. nameOfConference DOI: 10.1038/s41588-021-00969-x QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/76323 Graham SE, Clarke SL, Wu K-HH et al. (2021). The power of genetic diversity in genome-wide association studies of lipids. nameOfConference DOI: 10.1038/s41586-021-04064-3 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/75769 Marouli E, Yusuf L, Kjaergaard AD et al. (2021). Thyroid Function and the Risk of Alzheimer's Disease: A Mendelian Randomization Study. nameOfConference DOI: 10.1089/thy.2021.0321 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93833 Xie T, Gorenjak V, Stathopoulou MG et al. (2021). Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects. nameOfConference DOI: 10.1186/s12920-021-01077-9 QMRO: qmroHref Sulc J, Sonrel A, Mounier N et al. (publicationYear). Composite trait Mendelian randomization reveals distinct metabolic and lifestyle consequences of differences in body shape. nameOfConference DOI: 10.1038/s42003-021-02550-y QMRO: qmroHref Papadopoulou A, Musa H, Sivaganesan M et al. (2021). COVID-19 susceptibility variants associate with blood clots, thrombophlebitis and circulatory diseases. nameOfConference DOI: 10.1371/journal.pone.0256988 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74337 van Blokland IV, Lanting P, Ori APS et al. (publicationYear). Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility. nameOfConference DOI: 10.1371/journal.pone.0255402 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93825 Ellervik C, Mora S, Kuś A et al. (2021). Effects of Thyroid Function on Hemostasis, Coagulation, and Fibrinolysis: A Mendelian Randomization Study. nameOfConference DOI: 10.1089/thy.2021.0055 QMRO: qmroHref Niemi MEK, Karjalainen J, Liao RG et al. (2021). Mapping the human genetic architecture of COVID-19. nameOfConference DOI: 10.1038/s41586-021-03767-x QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/75755 Kuś A, Kjaergaard AD, Marouli E et al. (2021). Thyroid Function and Mood Disorders: A Mendelian Randomization Study. nameOfConference DOI: 10.1089/thy.2020.0884 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93837 Graff M, Justice AE, Young KL et al. (2021). Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. nameOfConference DOI: 10.1016/j.ajhg.2021.02.011 QMRO: qmroHref Mensah-Kane J, Schmidt AF, Hingorani AD et al. (publicationYear). No Clinically Relevant Effect of Heart Rate Increase and Heart Rate Recovery During Exercise on Cardiovascular Disease: A Mendelian Randomization Analysis. nameOfConference DOI: 10.3389/fgene.2021.569323 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71311 Kjaergaard AD, Marouli E, Papadopoulou A et al. (2021). Thyroid function, sex hormones and sexual function: a Mendelian randomization study. nameOfConference DOI: 10.1007/s10654-021-00721-z QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/70466 Kuś A, Marouli E, Del Greco M. F et al. (2021). Variation in Normal Range Thyroid Function Affects Serum Cholesterol Levels, Blood Pressure, and Type 2 Diabetes Risk: A Mendelian Randomization Study. nameOfConference DOI: 10.1089/thy.2020.0393 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71145 Marouli E, Kus A, Del Greco M F et al. (2020). Thyroid Function Affects the Risk of Stroke via Atrial Fibrillation: A Mendelian Randomization Study. nameOfConference DOI: 10.1210/clinem/dgaa239 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/64198 Ng N, Willems SM, Fernandez J et al. (2019). Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67585 Huang T, Wang T, Zheng Y et al. (2019). Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study. nameOfConference DOI: 10.1001/jamanetworkopen.2019.10915 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/64159 Murphy AM, Smith CE, Murphy LM et al. (2019). Potential Interplay between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome to Modulate Insulin Resistance and Diabetes Risk: Insights from a Meta-Analysis of 19 005 Individuals. nameOfConference DOI: 10.1002/mnfr.201900226 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/64759 Turcot V, Lu Y, Highland HM et al. (2019). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. nameOfConference DOI: 10.1038/s41588-019-0447-2 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/61615 Group MRODCW, Huang T, Sun D et al. (2019). Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies. nameOfConference DOI: 10.1373/clinchem.2018.300335 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59219 Marouli E, Del Greco MF, Astley CM et al. (publicationYear). Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease. nameOfConference DOI: 10.1038/s42003-019-0361-2 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/57678 Marouli E, Del Greco MF, Astley CM et al. (2019). Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease.. nameOfConference DOI: 10.1038/s42003-019-0361-2 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66915 Xie T, Gorenjak V, Stathopoulou MG et al. (publicationYear). Epigenome-Wide Association Study (EWAS) of Blood Lipids in Healthy Population from STANISLAS Family Study (SFS). nameOfConference DOI: 10.3390/ijms20051014 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/58921 Justice AE, Karaderi T, Highland HM et al. (2019). Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. nameOfConference DOI: 10.1038/s41588-018-0334-2 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/56167 Erzurumluoglu AM, Liu M, Jackson VE et al. (2020). Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. nameOfConference DOI: 10.1038/s41380-018-0313-0 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/55829 Brazel DM, Jiang Y, Hughey JM et al. (2018). Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use. nameOfConference DOI: 10.1016/j.biopsych.2018.11.024 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/57046 Hackinger S, Prins B, Mamakou V et al. (publicationYear). Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia. nameOfConference DOI: 10.1038/s41398-018-0304-6 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/54803 Murphy AM, Murphy L, Smith CE et al. (2017). Meta‐Analysis of 19,005 Individuals Identifies Interplay Between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome, to Modulate Insulin Resistance and Diabetes Risk. nameOfConference DOI: 10.1096/fasebj.31.1_supplement.644.19 QMRO: qmroHref Pulit SL, Stoneman C, Morris AP et al. (2019). Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. nameOfConference DOI: 10.1093/hmg/ddy327 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/54849 Mamakou V, Hackinger S, Zengini E et al. (2018). Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study. nameOfConference DOI: 10.1186/s12888-018-1826-4 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/55312 Mahajan A, Wessel J, Willems SM et al. (2018). Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. nameOfConference DOI: 10.1038/s41588-018-0084-1 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/56153 Turcot V, Lu Y, Highland HM et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. nameOfConference DOI: 10.1038/s41588-017-0011-x QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/34563 Turcot V, Lu Y, Highland HM et al. (2017). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.. nameOfConference DOI: 10.1038/s41588-018-0082-3 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/56697 Marouli E, Kanoni S, Mamakou V et al. (2017). Evaluating the glucose raising effect of established loci via a genetic risk score.. nameOfConference DOI: 10.1371/journal.pone.0186669 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/31465 Liu DJ, Peloso GM, Yu H et al. (2017). Exome-wide association study of plasma lipids in >300,000 individuals. nameOfConference DOI: 10.1038/ng.3977 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/28624 Nelson CP, Goel A, Butterworth AS et al. (2017). Association analyses based on false discovery rate implicate new loci for coronary artery disease. nameOfConference DOI: 10.1038/ng.3913 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/25185 Saleheen D, Zhao W, Young R et al. (2017). Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions. nameOfConference DOI: 10.1161/circulationaha.116.022069 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/36324 Webb TR, Erdmann J, Stirrups KE et al. (2017). Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.. nameOfConference DOI: 10.1016/j.jacc.2016.11.056 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/19641 Marouli E, Graff M, Medina-Gomez C et al. (2017). Rare and low-frequency coding variants alter human adult height.. nameOfConference DOI: 10.1038/nature21039 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/23049 Li M, Li Y, Weeks O et al. (2017). SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. nameOfConference DOI: 10.1681/asn.2016020131 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/36376 Loley C, Alver M, Assimes TL et al. (2016). No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.. nameOfConference DOI: 10.1038/srep35278 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18137 MUNROE PB (2016). Trans-ancestry meta-analyses identify novel rare and common variants associated with blood pressure and hypertension. nameOfConference DOI: 10.1038/ng.3654 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/13707 MUNROE PB (publicationYear). The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. nameOfConference DOI: 10.1038/ng.3667 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/15563 Stitziel NO, Stirrups KE, Masca NGD et al. (2016). Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. nameOfConference DOI: 10.1056/nejmoa1507652 QMRO: qmroHref Stitziel NO, Stirrups KE, Masca NGD et al. (2016). Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease (vol 374, pg 1134, 2016). nameOfConference DOI: doi QMRO: qmroHref Marouli E, Kanoni S, Dimitriou M et al. (2016). Lifestyle may modify the glucose-raising effect of genetic loci. A study in the Greek population. nameOfConference DOI: 10.1016/j.numecd.2015.10.003 QMRO: qmroHref Agiannitopoulos K, Bakalgianni A, Marouli E et al. (2016). Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease. nameOfConference DOI: 10.1002/jcla.21837 QMRO: qmroHref Wessel J, Chu AY, Willems SM et al. (publicationYear). Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. nameOfConference DOI: 10.1038/ncomms6897 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18365