Dr Ellen Schmidt | Computational Biologist

Schmidt, Ellen

I am interested in advancing the success of drug discovery and development by leveraging evidence from genetic association studies and functional experiments. As part of Open Targets, I use computational approaches to integrate summary statistics from genome-wide association studies (GWAS) and functional experiments to prioritize genes for drug targets. I apply techniques such as fine mapping and colocalization of association signals with molecular traits to systematically rank genes according to their likely functional impact. Using this approach, we can validate and discover new drug targets and propose opportunities for drug repurposing.


  • Genes for Good: Engaging the Public in Genetics Research via Social Media.

    Brieger K, Zajac GJM, Pandit A, Foerster JR, Li KW et al.

    American journal of human genetics 2019;105;1;65-77

  • Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

    Wolford BN, Hornsby WE, Guo D, Zhou W, Lin M et al.

    Circulation. Genomic and precision medicine 2019;12;6;e002476

  • Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

    Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM et al.

    Nature genetics 2018

  • Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

    Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW et al.

    Nature genetics 2018;50;9;1234-1239

  • Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.

    Fritsche LG, Gruber SB, Wu Z, Schmidt EM, Zawistowski M et al.

    American journal of human genetics 2018;102;6;1048-1061

  • Genetic variants and acute kidney injury: A review of the literature.

    Larach DB, Engoren MC, Schmidt EM and Heung M

    Journal of critical care 2018;44;203-211

  • Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry.

    Sanchez-Roige S, Fontanillas P, Elson SL, Pandit A, Schmidt EM et al.

    Nature neuroscience 2018;21;1;16-18

  • Exome-wide association study of plasma lipids in >300,000 individuals.

    Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X et al.

    Nature genetics 2017;49;12;1758-1766

  • A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS.

    Dey R, Schmidt EM, Abecasis GR and Lee S

    American journal of human genetics 2017;101;1;37-49

  • The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

    Ehret GB, Ferreira T, Chasman DI, Jackson AU, Schmidt EM et al.

    Nature genetics 2016;48;10;1171-1184

  • New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

    Lu Y, Day FR, Gustafsson S, Buchkovich ML, Na J et al.

    Nature communications 2016;7;10495

  • GREGOR: evaluating global enrichment of trait-associated variants in epigenomic features using a systematic, data-driven approach.

    Schmidt EM, Zhang J, Zhou W, Chen J, Mohlke KL et al.

    Bioinformatics (Oxford, England) 2015;31;16;2601-6

  • Insights into blood lipids from rare variant discovery.

    Schmidt EM and Willer CJ

    Current opinion in genetics & development 2015;33;25-31

  • Genetic studies of body mass index yield new insights for obesity biology.

    Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH et al.

    Nature 2015;518;7538;197-206

  • New genetic loci link adipose and insulin biology to body fat distribution.

    Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE et al.

    Nature 2015;518;7538;187-196

  • No large-effect low-frequency coding variation found for myocardial infarction.

    Holmen OL, Zhang H, Zhou W, Schmidt E, Hovelson DH et al.

    Human molecular genetics 2014;23;17;4721-8

  • Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

    Holmen OL, Zhang H, Fan Y, Hovelson DH, Schmidt EM et al.

    Nature genetics 2014;46;4;345-51

  • Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

    Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM et al.

    American journal of human genetics 2014;94;2;233-45

  • Common variants associated with plasma triglycerides and risk for coronary artery disease.

    Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C et al.

    Nature genetics 2013;45;11;1345-52

  • Discovery and refinement of loci associated with lipid levels.

    Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S et al.

    Nature genetics 2013;45;11;1274-1283

Schmidt, Ellen
Ellen's Timeline

Joined Queens' College Cambridge as a Postdoctoral Research Associate


Joined Open Targets at the Wellcome Sanger Institute


Ph.D. Bioinformatics, University of Michigan


Charles J. Epstein Trainee Award finalist, American Society of Human Genetics


M.S. Biostatistics, University of Michigan


B.S. Biology, State University of New York at Geneseo